Submissions for variant NM_002230.4(JUP):c.71C>T (p.Ser24Leu)

gnomAD frequency: 0.00001  dbSNP: rs782460555

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000183480	SCV000235940	uncertain significance	not provided	2020-07-23	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp	RCV000700883	SCV000829659	uncertain significance	Naxos disease; Arrhythmogenic right ventricular dysplasia 12	2023-07-29	criteria provided, single submitter	clinical testing	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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 201806). This variant has not been reported in the literature in individuals affected with JUP-related conditions. This variant is present in population databases (rs782460555, gnomAD 0.006%). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 24 of the JUP protein (p.Ser24Leu).
Fulgent Genetics, Fulgent Genetics	RCV000700883	SCV002775468	uncertain significance	Naxos disease; Arrhythmogenic right ventricular dysplasia 12	2021-09-01	criteria provided, single submitter	clinical testing
Clinical Genetics Laboratory, Skane University Hospital Lund	RCV000183480	SCV005196706	uncertain significance	not provided	2022-05-27	criteria provided, single submitter	clinical testing