ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.475A>G (p.Ser159Gly)

gnomAD frequency: 0.00001  dbSNP: rs770716257
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000800443 SCV000940158 uncertain significance Fanconi anemia 2022-06-14 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 159 of the FANCA protein (p.Ser159Gly). This variant is present in population databases (rs770716257, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with FANCA-related conditions. ClinVar contains an entry for this variant (Variation ID: 646207). 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) performed at Invitae indicates that this missense variant is not expected to disrupt FANCA protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 RCV001772062 SCV002001259 uncertain significance not provided 2020-12-21 criteria provided, single submitter clinical testing While protein-based in silico analysis supports that this missense variant does not alter protein structure/function, splice predictors suggest it may impact gene splicing. In the absence of RNA or functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV000800443 SCV002090764 uncertain significance Fanconi anemia 2021-06-21 no assertion criteria provided clinical testing

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