ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.328C>T (p.Leu110Phe)

gnomAD frequency: 0.00001  dbSNP: rs1164228546
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001298218 SCV001487264 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2021-08-13 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 110 of the RAPSN protein (p.Leu110Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is not present in population databases (ExAC no frequency). 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: "Probably 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.
Natera, Inc. RCV001836260 SCV002089164 uncertain significance Congenital myasthenic syndrome 2020-08-25 no assertion criteria provided clinical testing

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