ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.3464G>A (p.Gly1155Glu)

gnomAD frequency: 0.00001  dbSNP: rs397516186
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000035857 SCV000059508 uncertain significance not specified 2014-04-04 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Invitae RCV001315888 SCV001506482 uncertain significance Hypertrophic cardiomyopathy 2022-06-13 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 1155 of the MYH7 protein (p.Gly1155Glu). This variant is present in population databases (rs397516186, gnomAD 0.001%). This missense change has been observed in individual(s) with clinical features of dilated cardiomyopathy (PMID: 27532257, 32746448). ClinVar contains an entry for this variant (Variation ID: 42964). 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: "Probably Damaging"; 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.
AiLife Diagnostics, AiLife Diagnostics RCV002223768 SCV002502554 uncertain significance not provided 2021-10-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002460039 SCV002618037 uncertain significance Cardiovascular phenotype 2023-01-04 criteria provided, single submitter clinical testing The p.G1155E variant (also known as c.3464G>A), located in coding exon 25 of the MYH7 gene, results from a G to A substitution at nucleotide position 3464. The glycine at codon 1155 is replaced by glutamic acid, an amino acid with similar properties. This variant was detected in one individual from a dilated cardiomyopathy genetic testing cohort; however, clinical details were limited (Walsh R et al. Genet. Med., 2017 02;19:192-203). This alteration has also been reported in a pediatric cardiomyopathy cohort and an unselected exome cohort (Homburger JR et al. Proc Natl Acad Sci U S A, 2016 Jun;113:6701-6; Burstein DS et al. Pediatr Res, 2021 May;89:1470-1476). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV002223768 SCV003815402 uncertain significance not provided 2023-03-03 criteria provided, single submitter clinical testing

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