ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2212C>A (p.Pro738Thr)

dbSNP: rs751015814
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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 RCV001228182 SCV001400568 uncertain significance Fanconi anemia 2024-08-11 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 738 of the FANCA protein (p.Pro738Thr). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 955526). 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 expected to disrupt FANCA protein function with a positive predictive value of 80%. 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 RCV004978156 SCV005583224 uncertain significance Inborn genetic diseases 2024-11-24 criteria provided, single submitter clinical testing The p.P738T variant (also known as c.2212C>A), located in coding exon 24 of the FANCA gene, results from a C to A substitution at nucleotide position 2212. The proline at codon 738 is replaced by threonine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005014269 SCV005644503 uncertain significance Fanconi anemia complementation group A 2024-03-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001228182 SCV002092625 uncertain significance Fanconi anemia 2020-12-15 no assertion criteria provided clinical testing

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