ClinVar Miner

Submissions for variant NM_000143.4(FH):c.332G>A (p.Gly111Asp)

gnomAD frequency: 0.00001  dbSNP: rs764340490
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002554632 SCV001237109 uncertain significance not provided 2023-03-21 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on FH protein function. ClinVar contains an entry for this variant (Variation ID: 864568). This variant has not been reported in the literature in individuals affected with FH-related conditions. This variant is present in population databases (rs764340490, gnomAD 0.0009%). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 111 of the FH protein (p.Gly111Asp).
Ambry Genetics RCV002320359 SCV002611273 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-07 criteria provided, single submitter clinical testing The p.G111D variant (also known as c.332G>A), located in coding exon 3 of the FH gene, results from a G to A substitution at nucleotide position 332. The glycine at codon 111 is replaced by aspartic acid, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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