ClinVar Miner

Submissions for variant NM_012238.5(SIRT1):c.446G>A (p.Gly149Asp)

gnomAD frequency: 0.00006  dbSNP: rs978488168
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001923892 SCV002191815 uncertain significance not provided 2024-02-19 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 149 of the SIRT1 protein (p.Gly149Asp). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SIRT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1421949). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The aspartic acid amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV004044139 SCV004950523 uncertain significance not specified 2024-01-23 criteria provided, single submitter clinical testing The c.446G>A (p.G149D) alteration is located in exon 2 (coding exon 2) of the SIRT1 gene. This alteration results from a G to A substitution at nucleotide position 446, causing the glycine (G) at amino acid position 149 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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