ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.609C>G (p.Asn203Lys)

dbSNP: rs397516486
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000036629 SCV001493082 uncertain significance Hypertrophic cardiomyopathy 2023-05-05 criteria provided, single submitter clinical testing 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. 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 43679). This variant has not been reported in the literature in individuals affected with TPM1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 203 of the TPM1 protein (p.Asn203Lys).
Ambry Genetics RCV003162318 SCV003890590 uncertain significance Cardiovascular phenotype 2022-12-07 criteria provided, single submitter clinical testing The p.N203K variant (also known as c.609C>G), located in coding exon 6 of the TPM1 gene, results from a C to G substitution at nucleotide position 609. The asparagine at codon 203 is replaced by lysine, an amino acid with similar properties. This variant has been detected in a hypertrophic cardiomyopathy (HCM) cohort and an individual reported to have HCM (Harper AR et al. Nat Genet, 2021 Feb;53:135-142; Ambry internal data). 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000036629 SCV000060284 likely pathogenic Hypertrophic cardiomyopathy 2008-07-22 no assertion criteria provided clinical testing

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