ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.2693G>A (p.Arg898Gln)

gnomAD frequency: 0.00017  dbSNP: rs145507832
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000555496 SCV000650532 benign Aortic aneurysm, familial thoracic 7 2024-01-24 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659941 SCV000781845 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000555496 SCV001309929 uncertain significance Aortic aneurysm, familial thoracic 7 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV001591255 SCV001823347 likely benign not provided 2023-04-14 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Ambry Genetics RCV002431672 SCV002743429 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-02-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.

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