ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.178A>C (p.Lys60Gln)

gnomAD frequency: 0.00002  dbSNP: rs1380619456
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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 RCV001872735 SCV002145552 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamine at codon 60 of the RAPSN protein (p.Lys60Gln). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamine. This variant is not present in population databases (ExAC no frequency). 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: "Benign"; Align-GVGD: "Class C45"). 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 RCV002506929 SCV002816334 uncertain significance Congenital myasthenic syndrome 11; Fetal akinesia deformation sequence 2 2021-10-06 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003134172 SCV003813721 uncertain significance not provided 2021-11-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV003164216 SCV003885009 uncertain significance Inborn genetic diseases 2023-01-06 criteria provided, single submitter clinical testing The c.178A>C (p.K60Q) alteration is located in exon 1 (coding exon 1) of the RAPSN gene. This alteration results from a A to C substitution at nucleotide position 178, causing the lysine (K) at amino acid position 60 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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