ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.875T>A (p.Met292Lys)

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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 RCV004991863 SCV005602399 uncertain significance Cardiovascular phenotype 2024-09-03 criteria provided, single submitter clinical testing The c.875T>A (p.M292K) alteration is located in exon 2 (coding exon 2) of the JPH2 gene. This alteration results from a T to A substitution at nucleotide position 875, causing the methionine (M) at amino acid position 292 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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