ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.731T>C (p.Phe244Ser)

dbSNP: rs1915926866
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001235254 SCV001407933 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2021-05-31 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with JUP-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces phenylalanine with serine at codon 244 of the JUP protein (p.Phe244Ser). The phenylalanine residue is moderately conserved and there is a large physicochemical difference between phenylalanine and serine.
GeneDx RCV001576616 SCV001803842 uncertain significance not provided 2015-03-03 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004033275 SCV003947469 uncertain significance Cardiovascular phenotype 2023-05-04 criteria provided, single submitter clinical testing The c.731T>C (p.F244S) alteration is located in exon 5 (coding exon 4) of the JUP gene. This alteration results from a T to C substitution at nucleotide position 731, causing the phenylalanine (F) at amino acid position 244 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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