ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2413C>T (p.Pro805Ser)

gnomAD frequency: 0.00002  dbSNP: rs1359572434
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000815182 SCV000955630 uncertain significance Fanconi anemia 2022-07-27 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 805 of the FANCA protein (p.Pro805Ser). This variant is present in population databases (no rsID available, gnomAD 0.006%). 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: 658367). 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.
Ambry Genetics RCV003353052 SCV004070656 uncertain significance Inborn genetic diseases 2023-06-16 criteria provided, single submitter clinical testing The c.2413C>T (p.P805S) alteration is located in exon 26 (coding exon 26) of the FANCA gene. This alteration results from a C to T substitution at nucleotide position 2413, causing the proline (P) at amino acid position 805 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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