ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.524A>C (p.His175Pro)

dbSNP: rs1566967487
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000685773 SCV000813270 uncertain significance Hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 2018-01-14 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with ACTC1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces histidine with proline at codon 175 of the ACTC1 protein (p.His175Pro). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and proline.
GeneDx RCV003332227 SCV004040373 uncertain significance not provided 2023-03-30 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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