ClinVar Miner

Submissions for variant NM_001111.5(ADAR):c.1372G>A (p.Asp458Asn)

dbSNP: rs759763367
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001097510 SCV001253799 uncertain significance Symmetrical dyschromatosis of extremities 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Ambry Genetics RCV002555997 SCV003672496 uncertain significance Inborn genetic diseases 2022-12-28 criteria provided, single submitter clinical testing The c.1372G>A (p.D458N) alteration is located in exon 2 (coding exon 2) of the ADAR gene. This alteration results from a G to A substitution at nucleotide position 1372, causing the aspartic acid (D) at amino acid position 458 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003339485 SCV004050371 uncertain significance Aicardi-Goutieres syndrome 6 2023-04-11 criteria provided, single submitter clinical testing

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