ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.1010G>A (p.Arg337His)

gnomAD frequency: 0.00001  dbSNP: rs768445220
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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 RCV001064461 SCV001229366 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2022-06-20 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 337 of the RAPSN protein (p.Arg337His). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 858566). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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 RCV004030537 SCV004935800 uncertain significance Inborn genetic diseases 2024-03-11 criteria provided, single submitter clinical testing The c.1010G>A (p.R337H) alteration is located in exon 7 (coding exon 7) of the RAPSN gene. This alteration results from a G to A substitution at nucleotide position 1010, causing the arginine (R) at amino acid position 337 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001833629 SCV002087340 uncertain significance Congenital myasthenic syndrome 2020-12-22 no assertion criteria provided clinical testing

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