ClinVar Miner

Submissions for variant NM_024782.3(NHEJ1):c.172G>T (p.Ala58Ser)

gnomAD frequency: 0.00003  dbSNP: rs142684479
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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 RCV000794391 SCV000933796 uncertain significance Cernunnos-XLF deficiency 2022-05-20 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 58 of the NHEJ1 protein (p.Ala58Ser). This variant is present in population databases (rs142684479, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with NHEJ1-related conditions. ClinVar contains an entry for this variant (Variation ID: 641205). 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: "Tolerated"; PolyPhen-2: "Possibly 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.
Ambry Genetics RCV002536979 SCV003731414 uncertain significance Inborn genetic diseases 2022-08-24 criteria provided, single submitter clinical testing The c.172G>T (p.A58S) alteration is located in exon 2 (coding exon 1) of the NHEJ1 gene. This alteration results from a G to T substitution at nucleotide position 172, causing the alanine (A) at amino acid position 58 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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