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

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Total submissions: 5

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
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.
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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001418265	SCV001620490	likely benign	Naxos disease; Arrhythmogenic right ventricular dysplasia 12	2024-07-10	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
CeGaT Center for Human Genetics Tuebingen	RCV001093347	SCV001250282	likely benign	not provided	2019-10-01	criteria provided, single submitter	clinical testing

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