ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.22C>A (p.Gln8Lys)

gnomAD frequency: 0.00001  dbSNP: rs11556408
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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 RCV001036782 SCV001200163 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2022-06-07 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 8 of the RAPSN protein (p.Gln8Lys). This variant is present in population databases (rs11556408, gnomAD 0.03%). 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: 835811). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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. RCV001827218 SCV002089180 uncertain significance Congenital myasthenic syndrome 2020-03-21 no assertion criteria provided clinical testing

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