ClinVar Miner

Submissions for variant NM_000522.5(HOXA13):c.263G>A (p.Arg88His)

dbSNP: rs1441311870
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001763204 SCV001991819 uncertain significance not provided 2019-08-08 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002489757 SCV002793158 uncertain significance Guttmacher syndrome; Hand-foot-genital syndrome 2022-04-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV003355531 SCV004071437 uncertain significance Inborn genetic diseases 2023-06-26 criteria provided, single submitter clinical testing The c.263G>A (p.R88H) alteration is located in exon 1 (coding exon 1) of the HOXA13 gene. This alteration results from a G to A substitution at nucleotide position 263, causing the arginine (R) at amino acid position 88 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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