ClinVar Miner

Submissions for variant NM_000143.4(FH):c.905G>A (p.Gly302Asp)

dbSNP: rs1162334354
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001553142 SCV001402157 uncertain significance not provided 2022-06-05 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 302 of the FH protein (p.Gly302Asp). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FH-related conditions. ClinVar contains an entry for this variant (Variation ID: 956825). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
GeneDx RCV001553142 SCV001773957 uncertain significance not provided 2020-09-11 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
New York Genome Center RCV001229703 SCV002506897 uncertain significance Fumarase deficiency 2021-07-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004032675 SCV005032755 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-01 criteria provided, single submitter clinical testing The p.G302D variant (also known as c.905G>A) is located in coding exon 7 of the FH gene. The glycine at codon 302 is replaced by aspartic acid, an amino acid with similar properties. This change occurs in the first base pair of coding exon 7. This amino acid position is conserved. 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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