ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.310T>G (p.Ser104Ala)

gnomAD frequency: 0.00001  dbSNP: rs770016019
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002035901 SCV002290657 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2022-07-12 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 104 of the RAPSN protein (p.Ser104Ala). This variant is present in population databases (rs770016019, gnomAD 0.004%). 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: 1506059). 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.

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