ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.479T>C (p.Met160Thr)

gnomAD frequency: 0.00001  dbSNP: rs780985479
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001893269 SCV002165703 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2021-12-11 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 160 of the RAPSN protein (p.Met160Thr). This variant is present in population databases (rs780985479, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with RAPSN-related conditions. 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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 RCV003130582 SCV003813738 uncertain significance not provided 2022-11-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV003375411 SCV004082895 uncertain significance Inborn genetic diseases 2023-08-08 criteria provided, single submitter clinical testing The c.479T>C (p.M160T) alteration is located in exon 2 (coding exon 2) of the RAPSN gene. This alteration results from a T to C substitution at nucleotide position 479, causing the methionine (M) at amino acid position 160 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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