ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.394A>G (p.Ser132Gly)

dbSNP: rs2084319238
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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 RCV001041118 SCV001204714 uncertain significance not provided 2019-12-13 criteria provided, single submitter clinical testing 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: "Probably Damaging"; Align-GVGD: "Not Available"). 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. This variant has not been reported in the literature in individuals with NTHL1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with glycine at codon 140 of the NTHL1 protein (p.Ser140Gly). The serine residue is highly conserved and there is a small physicochemical difference between serine and glycine.

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