ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.837C>G (p.Ile279Met)

dbSNP: rs755310896
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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 RCV002027768 SCV002316943 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2023-05-23 criteria provided, single submitter clinical testing 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. 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: 1520994). This variant has not been reported in the literature in individuals affected with RAPSN-related conditions. This variant is present in population databases (rs755310896, gnomAD 0.003%). This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 279 of the RAPSN protein (p.Ile279Met).

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