ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.667G>A (p.Gly223Ser)

gnomAD frequency: 0.00004  dbSNP: rs138863694
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000802269 SCV000942093 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 223 of the RAPSN protein (p.Gly223Ser). This variant is present in population databases (rs138863694, gnomAD 0.009%). 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: 647705). 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 tolerated. 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.
Revvity Omics, Revvity RCV003133632 SCV003813740 uncertain significance not provided 2022-11-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830731 SCV002089146 uncertain significance Congenital myasthenic syndrome 2020-02-26 no assertion criteria provided clinical testing

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