ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.4000G>A (p.Ala1334Thr)

gnomAD frequency: 0.00003  dbSNP: rs925649874
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000761970 SCV000892199 uncertain significance not provided 2018-08-01 criteria provided, single submitter clinical testing
Invitae RCV001069469 SCV001234636 uncertain significance Fanconi anemia 2022-09-07 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1334 of the FANCA protein (p.Ala1334Thr). This variant is present in population databases (no rsID available, gnomAD 0.003%). 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: 623912). 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. 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 RCV000761970 SCV002757292 uncertain significance not provided 2022-05-24 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001069469 SCV002092484 uncertain significance Fanconi anemia 2020-12-03 no assertion criteria provided clinical testing

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