ClinVar Miner

Submissions for variant NM_012238.5(SIRT1):c.1246G>C (p.Glu416Gln)

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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 RCV005279347 SCV005941542 uncertain significance not specified 2025-02-24 criteria provided, single submitter clinical testing The c.1246G>C (p.E416Q) alteration is located in exon 7 (coding exon 7) of the SIRT1 gene. This alteration results from a G to C substitution at nucleotide position 1246, causing the glutamic acid (E) at amino acid position 416 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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