ClinVar Miner

Submissions for variant NM_004454.3(ETV5):c.734G>A (p.Arg245Gln)

gnomAD frequency: 0.00005  dbSNP: rs114869847
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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 RCV004259577 SCV003885912 uncertain significance not specified 2023-02-22 criteria provided, single submitter clinical testing The c.734G>A (p.R245Q) alteration is located in exon 8 (coding exon 7) of the ETV5 gene. This alteration results from a G to A substitution at nucleotide position 734, causing the arginine (R) at amino acid position 245 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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