ClinVar Miner

Submissions for variant NM_002906.4(RDX):c.1504A>G (p.Asn502Asp)

dbSNP: rs140180881
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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 RCV000367552 SCV000367163 uncertain significance Autosomal recessive nonsyndromic hearing loss 24 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Fulgent Genetics, Fulgent Genetics RCV000367552 SCV002792997 uncertain significance Autosomal recessive nonsyndromic hearing loss 24 2021-08-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002520670 SCV003569140 uncertain significance Inborn genetic diseases 2022-04-13 criteria provided, single submitter clinical testing The c.1504A>G (p.N502D) alteration is located in exon 13 (coding exon 12) of the RDX gene. This alteration results from a A to G substitution at nucleotide position 1504, causing the asparagine (N) at amino acid position 502 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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