ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.949G>A (p.Glu317Lys)

gnomAD frequency: 0.00005  dbSNP: rs772054419
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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 RCV001050364 SCV001214466 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 317 of the RAPSN protein (p.Glu317Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs772054419, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with RAPSN-related conditions. 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: "Possibly Damaging"; 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 RCV004031561 SCV004936878 uncertain significance Inborn genetic diseases 2022-08-16 criteria provided, single submitter clinical testing The c.949G>A (p.E317K) alteration is located in exon 6 (coding exon 6) of the RAPSN gene. This alteration results from a G to A substitution at nucleotide position 949, causing the glutamic acid (E) at amino acid position 317 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001274403 SCV001458530 uncertain significance Congenital myasthenic syndrome 2020-02-13 no assertion criteria provided clinical testing

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