ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.3844G>C (p.Val1282Leu)

dbSNP: rs763285173
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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 RCV001884478 SCV002152616 uncertain significance Aortic aneurysm, familial thoracic 4 2022-07-18 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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. ClinVar contains an entry for this variant (Variation ID: 1388276). This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1289 of the MYH11 protein (p.Val1289Leu). This variant is present in population databases (rs763285173, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with MYH11-related conditions.
Ambry Genetics RCV004039073 SCV005015555 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2024-01-02 criteria provided, single submitter clinical testing The c.3844G>C (p.V1282L) alteration is located in exon 28 (coding exon 27) of the MYH11 gene. This alteration results from a G to C substitution at nucleotide position 3844, causing the valine (V) at amino acid position 1282 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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