ClinVar Miner

Submissions for variant NM_000432.4(MYL2):c.479C>G (p.Thr160Ser)

dbSNP: rs2071647980
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001221689 SCV001393749 uncertain significance Hypertrophic cardiomyopathy 10 2024-11-18 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 160 of the MYL2 protein (p.Thr160Ser). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 37652022). ClinVar contains an entry for this variant (Variation ID: 950065). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
GeneDx RCV001563131 SCV001786019 uncertain significance not provided 2019-02-26 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Ambry Genetics RCV002339586 SCV002639551 uncertain significance Cardiovascular phenotype 2022-04-25 criteria provided, single submitter clinical testing The p.T160S variant (also known as c.479C>G), located in coding exon 7 of the MYL2 gene, results from a C to G substitution at nucleotide position 479. The threonine at codon 160 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. 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.

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