ClinVar Miner

Submissions for variant NM_001199085.3(TDRD5):c.1846G>A (p.Gly616Ser)

gnomAD frequency: 0.00017  dbSNP: rs199784694
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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 RCV004131622 SCV003613499 uncertain significance not specified 2024-05-31 criteria provided, single submitter clinical testing The c.1846G>A (p.G616S) alteration is located in exon 12 (coding exon 11) of the TDRD5 gene. This alteration results from a G to A substitution at nucleotide position 1846, causing the glycine (G) at amino acid position 616 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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