ClinVar Miner

Submissions for variant NM_005055.5(RAPSN):c.59A>T (p.Asn20Ile)

gnomAD frequency: 0.00001  dbSNP: rs747627949
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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 RCV000706416 SCV000835463 uncertain significance Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces asparagine with isoleucine at codon 20 of the RAPSN protein (p.Asn20Ile). The asparagine residue is highly conserved and there is a large physicochemical difference between asparagine and isoleucine. This variant is present in population databases (rs747627949, ExAC 0.02%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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 RCV003141705 SCV003813733 uncertain significance not provided 2019-05-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275254 SCV001460226 uncertain significance Congenital myasthenic syndrome 2020-09-16 no assertion criteria provided clinical testing

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