ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.532G>A (p.Asp178Asn)

dbSNP: rs1600858066
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000804053 SCV000943945 uncertain significance Hypertrophic cardiomyopathy 2018-09-14 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 tolerated, 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 JPH2-related disease. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces aspartic acid with asparagine at codon 178 of the JPH2 protein (p.Asp178Asn). The aspartic acid residue is weakly conserved and there is a small physicochemical difference between aspartic acid and asparagine.

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