Submissions for variant NM_005055.5(RAPSN):c.325T>G (p.Cys109Gly)

Minimum review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001337285	SCV001530881	uncertain significance	Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11	2022-09-01	criteria provided, single submitter	clinical testing	ClinVar contains an entry for this variant (Variation ID: 1034545). 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. 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"). This variant has not been reported in the literature in individuals affected with RAPSN-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces cysteine, which is neutral and slightly polar, with glycine, which is neutral and non-polar, at codon 109 of the RAPSN protein (p.Cys109Gly).
Natera, Inc.	RCV001836322	SCV002089165	uncertain significance	Congenital myasthenic syndrome	2021-09-28	no assertion criteria provided	clinical testing

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