ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.3981C>T (p.Val1327=)

gnomAD frequency: 0.00017  dbSNP: rs373556266
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757538 SCV000885798 likely benign not provided 2017-11-13 criteria provided, single submitter clinical testing The c.3981C>T variant (rs373556266) does not alter the MYLK protein sequence and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site (Alamut software v2.7.1). This variant has not been reported in patients with aortopathy in medical literature or in gene specific variation databases. the c.3981C>T variant is listed in the ExAC Browser with an overall population frequency of 0.006 percent (7 out of 121112 chromosomes) and is listed in the NHLBI GO Exome Sequencing Project with an overall population frequency of 0.02 percent (2 out of 13006 chromosomes). Thus, the c.3981C>T variant is likely to be benign.
Invitae RCV001088470 SCV001007805 likely benign Aortic aneurysm, familial thoracic 7 2024-01-04 criteria provided, single submitter clinical testing
GeneDx RCV000757538 SCV001772426 likely benign not provided 2021-03-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002370010 SCV002625189 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-08-07 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.
CeGaT Center for Human Genetics Tuebingen RCV000757538 SCV004155427 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing MYLK: BP4, BP7

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