ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.838G>A (p.Gly280Arg)

dbSNP: rs1262674788
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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 RCV000794222 SCV000933616 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2022-09-07 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 280 of the RAPSN protein (p.Gly280Arg). 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: 641067). 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: "Probably Damaging"; Align-GVGD: "Class C15"). 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 RCV004027476 SCV004935806 uncertain significance Inborn genetic diseases 2024-01-30 criteria provided, single submitter clinical testing The c.838G>A (p.G280R) alteration is located in exon 5 (coding exon 5) of the RAPSN gene. This alteration results from a G to A substitution at nucleotide position 838, causing the glycine (G) at amino acid position 280 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001825551 SCV002089057 uncertain significance Congenital myasthenic syndrome 2020-12-09 no assertion criteria provided clinical testing

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