ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.310G>C (p.Glu104Gln)

dbSNP: rs1596361132
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001004911 SCV001164415 uncertain significance Hypertrophic cardiomyopathy 3 2018-12-03 criteria provided, single submitter research The heterozygous p.Glu104Gln variant in TPM1 was identified by our study in one individual with hypertrophic cardiomyopathy. This variant was absent from large population studies. Computational prediction tools and conservation analyses suggest that the variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Glu104Gln variant is uncertain. ACMG/AMP Criteria applied: PM2, PP2, PP3 (Richards 2015).
Invitae RCV001860570 SCV002125514 uncertain significance Hypertrophic cardiomyopathy 2020-12-11 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. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with TPM1-related conditions. ClinVar contains an entry for this variant (Variation ID: 813935). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with glutamine at codon 104 of the TPM1 protein (p.Glu104Gln). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and glutamine.

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