ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.438C>A (p.Ser146Arg)

dbSNP: rs762464432
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV001256950 SCV001433481 uncertain significance Hypertrophic cardiomyopathy 1 2019-07-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004769979 SCV005381197 uncertain significance not specified 2024-08-08 criteria provided, single submitter clinical testing Variant summary: JPH2 c.438C>A (p.Ser146Arg) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4.7e-06 in 212158 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.438C>A in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 978373). Based on the evidence outlined above, the variant was classified as uncertain significance.

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