ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.1068G>T (p.Gln356His)

dbSNP: rs2515744211
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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 RCV002410592 SCV002720001 uncertain significance Cardiovascular phenotype 2022-09-28 criteria provided, single submitter clinical testing The p.Q356H variant (also known as c.1068G>T), located in coding exon 2 of the JPH2 gene, results from a G to T substitution at nucleotide position 1068. The glutamine at codon 356 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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