Submissions for variant NM_005055.5(RAPSN):c.909C>G (p.Asp303Glu)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002988858	SCV003295145	uncertain significance	Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 11	2022-08-09	criteria provided, single submitter	clinical testing	This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 303 of the RAPSN protein (p.Asp303Glu). This variant is present in population databases (rs376607111, gnomAD 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamic acid 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	RCV003134578	SCV003813705	uncertain significance	not provided	2023-05-17	criteria provided, single submitter	clinical testing

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