ClinVar Miner

Submissions for variant NM_001289808.2(CRYAB):c.152C>T (p.Pro51Leu) (rs2234704)

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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037211 SCV000060868 likely benign not specified 2016-04-20 criteria provided, single submitter clinical testing p.Pro51Leu in exon 1 of CRYAB: This variant is not expected to have clinical sig nificance due to a lack of conservation across species, including mammals. Of no te, mouse lemur, tree shrew, dolphin, and armadillo have a leucine (Leu, this va riant) at this position despite high nearby amino acid conservation. In addition , computational analyses (AlignGVGD, PolyPhen2, SIFT) do not suggest a high like lihood of impact to the protein. Additionally, the Pro51Leu variant has been ide ntified in 44/57370 European chromosomes by the Exome Aggregation Consortium (E xAC, http://exac.broadinstitute.org; dbSNP rs2234704).
GeneDx RCV000037211 SCV000235759 likely benign not specified 2018-02-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726131 SCV000342239 uncertain significance not provided 2016-06-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000320693 SCV000367271 benign Alpha-B crystallinopathy 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000375343 SCV000367272 benign Cataract 16, multiple types 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000280721 SCV000367273 uncertain significance Fatal infantile hypertonic myofibrillar myopathy 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV001082909 SCV000563212 likely benign Dilated cardiomyopathy 1II 2020-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620871 SCV000736950 likely benign Cardiovascular phenotype 2018-12-05 criteria provided, single submitter clinical testing Does not segregate with disease in family study (genes with incomplete penetrance);In silico models in agreement (benign)
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769291 SCV000900669 benign Cardiomyopathy 2018-10-16 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000726131 SCV001148457 uncertain significance not provided 2016-05-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001287065 SCV001473708 likely benign none provided 2020-02-16 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000726131 SCV001742113 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000037211 SCV001918529 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000726131 SCV001930754 likely benign not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000037211 SCV001953235 benign not specified no assertion criteria provided clinical testing

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