ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.1594C>T (p.Arg532Cys)

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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 RCV004991862 SCV005602398 uncertain significance Cardiovascular phenotype 2024-08-28 criteria provided, single submitter clinical testing The c.1594C>T (p.R532C) alteration is located in exon 4 (coding exon 4) of the JPH2 gene. This alteration results from a C to T substitution at nucleotide position 1594, causing the arginine (R) at amino acid position 532 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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