ClinVar Miner

Submissions for variant NM_004454.3(ETV5):c.995G>A (p.Arg332Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004915484 SCV005587781 uncertain significance not specified 2024-07-14 criteria provided, single submitter clinical testing The c.995G>A (p.R332Q) alteration is located in exon 10 (coding exon 9) of the ETV5 gene. This alteration results from a G to A substitution at nucleotide position 995, causing the arginine (R) at amino acid position 332 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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