ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.791G>A (p.Arg264Lys)

dbSNP: rs2150938174
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001975292 SCV002250028 uncertain significance not provided 2021-07-24 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. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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 affected with NTHL1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with lysine at codon 272 of the NTHL1 protein (p.Arg272Lys). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and lysine. This variant also falls at the last nucleotide of exon 5, which is part of the consensus splice site for this exon.
Fulgent Genetics, Fulgent Genetics RCV005008319 SCV005638576 uncertain significance Familial adenomatous polyposis 3 2024-06-05 criteria provided, single submitter clinical testing

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