ClinVar Miner

Submissions for variant NM_053025.4(MYLK):c.2120A>G (p.Gln707Arg)

gnomAD frequency: 0.00007  dbSNP: rs201615936
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724560 SCV000226365 uncertain significance not provided 2015-02-09 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001078482 SCV000440320 uncertain significance Aortic aneurysm, familial thoracic 7 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.
GeneDx RCV000724560 SCV000535386 likely benign not provided 2021-04-26 criteria provided, single submitter clinical testing
Invitae RCV001078482 SCV000650520 likely benign Aortic aneurysm, familial thoracic 7 2023-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002415748 SCV002727093 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-07-08 criteria provided, single submitter clinical testing The p.Q707R variant (also known as c.2120A>G), located in coding exon 12 of the MYLK gene, results from an A to G substitution at nucleotide position 2120. The glutamine at codon 707 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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