ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.691G>T (p.Ala231Ser)

dbSNP: rs746814384
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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 RCV001057015 SCV001221484 uncertain significance Fanconi anemia 2021-09-15 criteria provided, single submitter clinical testing This sequence change replaces alanine with serine at codon 231 of the FANCA protein (p.Ala231Ser). The alanine residue is weakly conserved and there is a moderate physicochemical difference between alanine and serine. This variant is present in population databases (rs746814384, ExAC 0.002%). 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.
Mayo Clinic Laboratories, Mayo Clinic RCV001509538 SCV001716294 uncertain significance not provided 2019-10-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276564 SCV001462962 uncertain significance Fanconi anemia complementation group A 2020-01-24 no assertion criteria provided clinical testing

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