ClinVar Miner

Submissions for variant NM_012238.5(SIRT1):c.2065A>G (p.Met689Val)

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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 RCV004864338 SCV005494479 uncertain significance not specified 2024-09-11 criteria provided, single submitter clinical testing The c.2065A>G (p.M689V) alteration is located in exon 9 (coding exon 9) of the SIRT1 gene. This alteration results from a A to G substitution at nucleotide position 2065, causing the methionine (M) at amino acid position 689 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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