ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.731C>A (p.Thr244Asn)

dbSNP: rs145312239
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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 RCV001297608 SCV001486636 uncertain significance not provided 2018-05-22 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with NTHL1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with asparagine at codon 252 of the NTHL1 protein (p.Thr252Asn). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and asparagine.

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