ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.4293G>A (p.Pro1431=)

gnomAD frequency: 0.00016  dbSNP: rs370153686
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002310930 SCV000319526 likely benign Familial thoracic aortic aneurysm and aortic dissection 2015-04-08 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.
Invitae RCV001089352 SCV000650553 likely benign Aortic aneurysm, familial thoracic 7 2023-12-28 criteria provided, single submitter clinical testing
GeneDx RCV000530049 SCV000721438 likely benign not provided 2020-10-21 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000680569 SCV000807983 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001089352 SCV001306802 uncertain significance Aortic aneurysm, familial thoracic 7 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000530049 SCV001472595 likely benign not provided 2023-08-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003317175 SCV004021267 benign not specified 2023-06-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000530049 SCV001808282 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000530049 SCV001931278 likely benign not provided no assertion criteria provided clinical testing

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