Submissions for variant NM_001130987.2(DYSF):c.3065A>G (p.Asn1022Ser) (rs772518246)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000176870	SCV000228628	uncertain significance	not provided	2015-03-13	criteria provided, single submitter	clinical testing
Invitae	RCV000704398	SCV000833346	uncertain significance	Dysferlinopathy	2018-05-14	criteria provided, single submitter	clinical testing	This sequence change replaces asparagine with serine at codon 1004 of the DYSF protein (p.Asn1004Ser). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs772518246, ExAC 0.006%). This variant has not been reported in the literature in individuals with DYSF-related disease. ClinVar contains an entry for this variant (Variation ID: 196125). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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