Submissions for variant NM_001130987.2(DYSF):c.2938G>A (p.Gly980Arg) (rs151064013)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000534690	SCV000649643	uncertain significance	Dysferlinopathy	2016-12-03	criteria provided, single submitter	clinical testing	This sequence change replaces glycine with arginine at codon 962 of the DYSF protein (p.Gly962Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a DYSF-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000732763	SCV000860749	uncertain significance	not provided	2018-04-16	criteria provided, single submitter	clinical testing

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