Submissions for variant NM_022367.4(SEMA4A):c.1918G>A (p.Val640Met)

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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	RCV002301269	SCV002592272	uncertain significance	not provided	2022-08-07	criteria provided, single submitter	clinical testing	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"). 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. This variant has not been reported in the literature in individuals affected with SEMA4A-related conditions. This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 640 of the SEMA4A protein (p.Val640Met). This variant is not present in population databases (gnomAD no frequency).
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	RCV004817013	SCV005070306	uncertain significance	Retinal dystrophy	2023-01-01	no assertion criteria provided	clinical testing

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