ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2668G>A (p.Glu890Lys)

gnomAD frequency: 0.00025  dbSNP: rs200049922
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000416052 SCV000337259 uncertain significance not provided 2016-01-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000338669 SCV000431769 uncertain significance Miyoshi myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000393077 SCV000431770 uncertain significance Limb-girdle muscular dystrophy, recessive 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000416052 SCV000493434 uncertain significance not provided 2016-07-01 criteria provided, single submitter clinical testing
Invitae RCV000531939 SCV000649634 likely benign Qualitative or quantitative defects of dysferlin 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000531939 SCV001302998 uncertain significance Qualitative or quantitative defects of dysferlin 2018-01-13 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.
GeneDx RCV000416052 SCV001816848 uncertain significance not provided 2020-05-11 criteria provided, single submitter clinical testing Identified as a single heterozygous variant in a patient with a clinical diagnosis of limb-girdle muscular dystrophy (Nallamilli et al., 2018); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30564623)
Revvity Omics, Revvity RCV000416052 SCV003830871 uncertain significance not provided 2021-12-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000416052 SCV005187730 uncertain significance not provided criteria provided, single submitter not provided
Natera, Inc. RCV001271795 SCV001453235 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-01-08 no assertion criteria provided clinical testing

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