ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.50G>T (p.Gly17Val)

dbSNP: rs1250267129
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002335992 SCV002641937 uncertain significance Cardiovascular phenotype 2021-12-15 criteria provided, single submitter clinical testing The p.G17V variant (also known as c.50G>T), located in coding exon 1 of the JPH2 gene, results from a G to T substitution at nucleotide position 50. The glycine at codon 17 is replaced by valine, an amino acid with dissimilar properties. This variant was detected in a cardiomyopathy genetic testing cohort; however, clinical details were limited, and additional cardiac variants were detected (van Lint FHM et al. Neth Heart J, 2019 Jun;27:304-309). 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.

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