ClinVar Miner

Submissions for variant NM_001199085.3(TDRD5):c.695T>G (p.Phe232Cys)

dbSNP: rs750848742
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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 RCV004466807 SCV004964428 uncertain significance not specified 2023-12-07 criteria provided, single submitter clinical testing The c.695T>G (p.F232C) alteration is located in exon 4 (coding exon 3) of the TDRD5 gene. This alteration results from a T to G substitution at nucleotide position 695, causing the phenylalanine (F) at amino acid position 232 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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