ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.706G>A (p.Ala236Thr)

gnomAD frequency: 0.00003  dbSNP: rs545915312
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000331606 SCV000372452 uncertain significance Fetal akinesia deformation sequence 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000386023 SCV000372453 uncertain significance Congenital Myasthenic Syndrome, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001859810 SCV002210400 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2021-09-24 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 236 of the RAPSN protein (p.Ala236Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs545915312, ExAC 0.003%). This variant has not been reported in the literature in individuals with RAPSN-related conditions. ClinVar contains an entry for this variant (Variation ID: 304975). 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: "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 RCV003129829 SCV003813734 uncertain significance not provided 2023-09-23 criteria provided, single submitter clinical testing

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