ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.780C>T (p.Ala260=)

gnomAD frequency: 0.00034  dbSNP: rs199840543
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000214594 SCV000269187 benign not specified 2015-06-25 criteria provided, single submitter clinical testing p.Ala260Ala in exon 2 of JPH2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 3.5% (73/2104) of Eas t Asian chromosomes, including 3 homozygotes, by the Exome Aggregation Consortiu m (ExAC,; dbSNP rs199840543).
Ambry Genetics RCV000247450 SCV000319033 benign Cardiovascular phenotype 2016-08-11 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV000214594 SCV000513305 benign not specified 2015-07-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000457483 SCV000554193 benign Hypertrophic cardiomyopathy 2024-01-17 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529720 SCV001743661 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000214594 SCV001928014 benign not specified no assertion criteria provided clinical testing

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