ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.82G>T (p.Val28Leu)

gnomAD frequency: 0.00001  dbSNP: rs199984356
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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 RCV001054151 SCV001218453 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 28 of the RAPSN protein (p.Val28Leu). This variant is present in population databases (rs199984356, gnomAD 0.02%). 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: 850061). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. RCV001836092 SCV002089176 uncertain significance Congenital myasthenic syndrome 2020-10-23 no assertion criteria provided clinical testing

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