ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.1126C>T (p.Arg376Trp)

gnomAD frequency: 0.00004  dbSNP: rs145507075
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000653217 SCV000775093 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 376 of the RAPSN protein (p.Arg376Trp). This variant is present in population databases (rs145507075, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with RAPSN-related conditions. ClinVar contains an entry for this variant (Variation ID: 542735). 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: "Possibly Damaging"; 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 RCV003129971 SCV003813735 uncertain significance not provided 2023-09-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835897 SCV002087285 uncertain significance Congenital myasthenic syndrome 2019-11-11 no assertion criteria provided clinical testing

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