ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.3897C>T (p.Ala1299=)

gnomAD frequency: 0.00006  dbSNP: rs190546350
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000247203 SCV000306184 likely benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000513032 SCV000336130 uncertain significance not provided 2015-10-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000513032 SCV000608753 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing
Invitae RCV000554279 SCV000641035 likely benign Aortic aneurysm, familial thoracic 4 2023-11-27 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000554279 SCV000898838 uncertain significance Aortic aneurysm, familial thoracic 4 2018-03-27 criteria provided, single submitter clinical testing MYH11 NM_002474.2 exon 29 p.Ala1299= (c.3897C>T): This variant has not been reported in the literature but is present in 6/34412 Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs190546350). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Illumina Laboratory Services, Illumina RCV000554279 SCV001274499 uncertain significance Aortic aneurysm, familial thoracic 4 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.
Illumina Laboratory Services, Illumina RCV001116426 SCV001274500 uncertain significance Lissencephaly 4 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.
Color Diagnostics, LLC DBA Color Health RCV001175634 SCV001339306 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-11-25 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000247203 SCV001362200 benign not specified 2019-07-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV001175634 SCV002620676 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-07-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224241 SCV003920233 uncertain significance Aortic aneurysm, familial thoracic 4; Visceral myopathy 2; Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 2021-03-30 criteria provided, single submitter clinical testing MYH11 NM_002474.2 exon 29 p.Ala1299= (c.3897C>T): This variant has not been reported in the literature but is present in 6/34412 Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs190546350). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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