ClinVar Miner

Submissions for variant NM_000380.4(XPA):c.292A>G (p.Met98Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003154666 SCV003843335 benign Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV003164878 SCV003908237 uncertain significance Inborn genetic diseases 2023-02-28 criteria provided, single submitter clinical testing The c.292A>G (p.M98V) alteration is located in exon 3 (coding exon 3) of the XPA gene. This alteration results from a A to G substitution at nucleotide position 292, causing the methionine (M) at amino acid position 98 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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