ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.490C>G (p.Arg164Gly)

dbSNP: rs104894294
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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 RCV001938528 SCV002197078 pathogenic Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2022-10-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Arg164 amino acid residue in RAPSN. Other variant(s) that disrupt this residue have been observed in individuals with RAPSN-related conditions (PMID: 16931511, 19620612, 27966543, 32070632), which suggests that this may be a clinically significant amino acid residue. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt RAPSN protein function. ClinVar contains an entry for this variant (Variation ID: 1417647). This missense change has been observed in individual(s) with clinical features of congenital myasthenic syndrome (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 164 of the RAPSN protein (p.Arg164Gly).

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