ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.902C>T (p.Ala301Val)

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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 RCV002917407 SCV003247396 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 301 of the RAPSN protein (p.Ala301Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs778113748, 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 RCV003134527 SCV003813716 uncertain significance not provided 2019-05-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV004066072 SCV004936877 uncertain significance Inborn genetic diseases 2024-02-28 criteria provided, single submitter clinical testing The c.902C>T (p.A301V) alteration is located in exon 5 (coding exon 5) of the RAPSN gene. This alteration results from a C to T substitution at nucleotide position 902, causing the alanine (A) at amino acid position 301 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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