ClinVar Miner

Submissions for variant NM_017986.4(SLC52A1):c.950T>C (p.Val317Ala)

gnomAD frequency: 0.00001  dbSNP: rs1004440864
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002235577 SCV000964657 uncertain significance Ariboflavinosis 2020-10-09 criteria provided, single submitter clinical testing This sequence change replaces valine with alanine at codon 317 of the SLC52A1 protein (p.Val317Ala). The valine residue is highly conserved and there is a small physicochemical difference between valine and alanine. This variant is not present in population databases (ExAC no frequency). 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. 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: "Benign"; Align-GVGD: "Class C55"). This variant has not been reported in the literature in individuals with SLC52A1-related disease.

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