ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.71G>T (p.Cys24Phe)

dbSNP: rs1034291686
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001346801 SCV001541027 uncertain significance not provided 2020-10-12 criteria provided, single submitter clinical testing 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: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). This variant has not been reported in the literature in individuals with NTHL1-related conditions. This sequence change replaces cysteine with phenylalanine at codon 32 of the NTHL1 protein (p.Cys32Phe). The cysteine residue is weakly conserved and there is a large physicochemical difference between cysteine and phenylalanine.

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