ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.445G>A (p.Ala149Thr)

dbSNP: rs1198813718
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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 RCV000653218 SCV000775094 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2017-11-27 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 149 of the RAPSN protein (p.Ala149Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RAPSN-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably 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.
Revvity Omics, Revvity RCV003129972 SCV003813703 uncertain significance not provided 2019-03-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV004025898 SCV004935804 uncertain significance Inborn genetic diseases 2024-02-28 criteria provided, single submitter clinical testing The c.445G>A (p.A149T) alteration is located in exon 2 (coding exon 2) of the RAPSN gene. This alteration results from a G to A substitution at nucleotide position 445, causing the alanine (A) at amino acid position 149 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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