Submissions for variant NM_002230.4(JUP):c.1028G>A (p.Ser343Asn)

dbSNP: rs1597808088

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001965736	SCV002246217	uncertain significance	Naxos disease; Arrhythmogenic right ventricular dysplasia 12	2024-03-02	criteria provided, single submitter	clinical testing	This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 343 of the JUP protein (p.Ser343Asn). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with JUP-related conditions. ClinVar contains an entry for this variant (Variation ID: 1461196). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Revvity Omics, Revvity	RCV003134300	SCV003813904	uncertain significance	not provided	2019-07-26	criteria provided, single submitter	clinical testing
Clinical Genetics Laboratory, Skane University Hospital Lund	RCV003134300	SCV005198503	uncertain significance	not provided	2022-05-27	criteria provided, single submitter	clinical testing