ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.889G>A (p.Val297Met)

gnomAD frequency: 0.00004  dbSNP: rs369570812
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000653219 SCV000775095 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2022-02-24 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 297 of the RAPSN protein (p.Val297Met). 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: 542737). 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 methionine 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.
Fulgent Genetics, Fulgent Genetics RCV002507125 SCV002816663 uncertain significance Congenital myasthenic syndrome 11; Fetal akinesia deformation sequence 2 2021-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV004659157 SCV005163096 uncertain significance Inborn genetic diseases 2024-04-09 criteria provided, single submitter clinical testing The c.889G>A (p.V297M) 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 889, causing the valine (V) at amino acid position 297 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001274407 SCV001458534 uncertain significance Congenital myasthenic syndrome 2020-04-13 no assertion criteria provided clinical testing

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