ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.581A>G (p.Asn194Ser)

dbSNP: rs2076375665
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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 RCV001306435 SCV001495807 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 194 of the RAPSN protein (p.Asn194Ser). This variant is not present in population databases (gnomAD no frequency). 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: 1009012). 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 serine 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.
Revvity Omics, Revvity RCV003490177 SCV004236548 uncertain significance not provided 2023-02-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830227 SCV002089155 uncertain significance Congenital myasthenic syndrome 2020-10-14 no assertion criteria provided clinical testing

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