ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.4039A>G (p.Ser1347Gly)

dbSNP: rs2151219347
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001365639 SCV001561915 uncertain significance Aortic aneurysm, familial thoracic 4 2022-08-16 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1056760). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with MYH11-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 1354 of the MYH11 protein (p.Ser1354Gly).
Color Diagnostics, LLC DBA Color Health RCV003528293 SCV004359375 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-05-16 criteria provided, single submitter clinical testing This missense variant replaces serine with glycine at codon 1354 of the MYH11 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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