ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.475G>A (p.Ala159Thr)

gnomAD frequency: 0.00002  dbSNP: rs199506866
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001228173 SCV001400559 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2022-08-15 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 159 of the RAPSN protein (p.Ala159Thr). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with clinical features of RAPSN-related conditions (PMID: 31965297). ClinVar contains an entry for this variant (Variation ID: 955518). 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 threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV003132306 SCV003813749 uncertain significance not provided 2021-05-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828820 SCV002089159 uncertain significance Congenital myasthenic syndrome 2020-02-07 no assertion criteria provided clinical testing

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