ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.817A>T (p.Met273Leu)

dbSNP: rs1397711588
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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 RCV000700559 SCV000829318 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2023-11-27 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 273 of the RAPSN protein (p.Met273Leu). 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: 577733). 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 with a negative predictive value of 80%. 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.
Ambry Genetics RCV002534383 SCV003533506 uncertain significance Inborn genetic diseases 2021-09-01 criteria provided, single submitter clinical testing The c.817A>T (p.M273L) alteration is located in exon 5 (coding exon 5) of the RAPSN gene. This alteration results from a A to T substitution at nucleotide position 817, causing the methionine (M) at amino acid position 273 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001830545 SCV002089079 uncertain significance Congenital myasthenic syndrome 2021-01-11 no assertion criteria provided clinical testing

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