ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1627C>T (p.Pro543Ser)

dbSNP: rs763074159
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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 RCV001300011 SCV001489133 uncertain significance Fanconi anemia 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 543 of the FANCA protein (p.Pro543Ser). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (rs763074159, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with FANCA-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Genome-Nilou Lab RCV001563819 SCV001786853 uncertain significance Fanconi anemia complementation group A 2021-07-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV004978264 SCV005583368 uncertain significance Inborn genetic diseases 2024-12-05 criteria provided, single submitter clinical testing The p.P543S variant (also known as c.1627C>T) is located in coding exon 18 of the FANCA gene. The proline at codon 543 is replaced by serine, an amino acid with similar properties. This change occurs in the first base pair of coding exon 18. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.
Natera, Inc. RCV001300011 SCV002095023 uncertain significance Fanconi anemia 2020-09-14 no assertion criteria provided clinical testing

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