ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.1142G>T (p.Arg381Leu)

gnomAD frequency: 0.00001  dbSNP: rs746668155
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001881272 SCV002143215 uncertain significance Hypertrophic cardiomyopathy 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces arginine with leucine at codon 381 of the JPH2 protein (p.Arg381Leu). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and leucine. This variant is present in population databases (rs746668155, ExAC 0.03%). This variant has not been reported in the literature in individuals affected with JPH2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV004041139 SCV003887702 uncertain significance Cardiovascular phenotype 2023-03-13 criteria provided, single submitter clinical testing The c.1142G>T (p.R381L) alteration is located in exon 2 (coding exon 2) of the JPH2 gene. This alteration results from a G to T substitution at nucleotide position 1142, causing the arginine (R) at amino acid position 381 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003407880 SCV004114135 uncertain significance JPH2-related disorder 2023-03-22 criteria provided, single submitter clinical testing The JPH2 c.1142G>T variant is predicted to result in the amino acid substitution p.Arg381Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.017% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/20-42788285-C-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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