Submissions for variant NM_001130987.2(DYSF):c.2725G>A (p.Val909Ile) (rs201622087)

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Total submissions: 3

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000176653	SCV000228344	uncertain significance	not provided	2015-11-03	criteria provided, single submitter	clinical testing
Invitae	RCV000553449	SCV000649636	uncertain significance	Dysferlinopathy	2018-03-19	criteria provided, single submitter	clinical testing	This sequence change replaces valine with isoleucine at codon 891 of the DYSF protein (p.Val891Ile). The valine residue is moderately conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs201622087, ExAC 0.02%). This variant has not been reported in the literature in individuals with DYSF-related disease. ClinVar contains an entry for this variant (Variation ID: 195961). 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: "Tolerated"; 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.
CeGaT Praxis fuer Humangenetik Tuebingen	RCV000176653	SCV000892566	uncertain significance	not provided	2018-09-30	criteria provided, single submitter	clinical testing

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