ClinVar Miner

Submissions for variant NM_206937.2(LIG4):c.1169G>A (p.Ser390Asn)

gnomAD frequency: 0.00014  dbSNP: rs35469724
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001367545 SCV001563898 likely benign DNA ligase IV deficiency 2023-08-31 criteria provided, single submitter clinical testing
GeneDx RCV002269367 SCV002553174 uncertain significance not provided 2022-01-24 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002547871 SCV003585954 uncertain significance Inborn genetic diseases 2021-07-14 criteria provided, single submitter clinical testing The c.1169G>A (p.S390N) alteration is located in exon 2 (coding exon 1) of the LIG4 gene. This alteration results from a G to A substitution at nucleotide position 1169, causing the serine (S) at amino acid position 390 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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