ClinVar Miner

Submissions for variant NM_024782.3(NHEJ1):c.748G>A (p.Asp250Asn)

gnomAD frequency: 0.00009  dbSNP: rs367766187
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001363014 SCV001559092 uncertain significance Cernunnos-XLF deficiency 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 250 of the NHEJ1 protein (p.Asp250Asn). The aspartic acid residue is weakly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs367766187, ExAC 0.007%). This variant has not been reported in the literature in individuals affected with NHEJ1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV003264009 SCV003945734 uncertain significance Inborn genetic diseases 2023-05-24 criteria provided, single submitter clinical testing The c.748G>A (p.D250N) alteration is located in exon 7 (coding exon 6) of the NHEJ1 gene. This alteration results from a G to A substitution at nucleotide position 748, causing the aspartic acid (D) at amino acid position 250 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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