ClinVar Miner

Submissions for variant NM_001032386.2(SUOX):c.794C>A (p.Ala265Asp)

dbSNP: rs121908008
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000758700 SCV002231047 uncertain significance Sulfite oxidase deficiency 2021-03-15 criteria provided, single submitter clinical testing 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: "Probably Damaging"; Align-GVGD: "Class C15"). This variant has been observed in individual(s) with sulfite oxidase deficiency (PMID: 10519592, 9428520). This variant is also known as c.623C>A (p.Ala208Asp). ClinVar contains an entry for this variant (Variation ID: 3821). This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with aspartic acid at codon 265 of the SUOX protein (p.Ala265Asp). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and aspartic acid.
OMIM RCV000758700 SCV000024191 pathogenic Sulfite oxidase deficiency 1997-12-26 no assertion criteria provided literature only
GeneReviews RCV000758700 SCV000887474 not provided Sulfite oxidase deficiency no assertion provided literature only

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