ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1506C>T (p.Ile502=)

gnomAD frequency: 0.00001  dbSNP: rs372963143
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001093347 SCV001250282 likely benign not provided 2019-10-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001255550 SCV001432020 likely benign not specified 2020-08-24 criteria provided, single submitter clinical testing
Invitae RCV001418265 SCV001620490 likely benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2023-12-22 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV001255550 SCV002073469 likely benign not specified 2022-01-16 criteria provided, single submitter clinical testing This synonymous variant has occurred in GnomAD with a total MAF of 0.0012% and with the highest MAF of 0.0033% in the South Asian population. This position is not conserved. In silico splicing algorithm predicted no impact on splicing, but no functional studies were performed to confirm this prediction. This variant NM_002230.4(JUP):c.1506C>T (p.Ile502=) is present in the ClinVar database (ID: 872721). The variant has not occurred in the literature in association with the disease. Considering that the variant has a relatively high frequency in a subpopulation, it has been classified as Likely Benign.
Ambry Genetics RCV002393353 SCV002699441 likely benign Cardiovascular phenotype 2019-03-22 criteria provided, single submitter clinical testing This alteration is classified as likely 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.

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