ClinVar Miner

Submissions for variant NM_000262.3(NAGA):c.230T>C (p.Ile77Thr)

gnomAD frequency: 0.00011  dbSNP: rs375884363
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001347328 SCV001541584 uncertain significance Alpha-N-acetylgalactosaminidase deficiency type 1 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 77 of the NAGA protein (p.Ile77Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is present in population databases (rs375884363, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with NAGA-related conditions. 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.

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