ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1289C>T (p.Ala430Val)

gnomAD frequency: 0.00001  dbSNP: rs772567344
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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 RCV000704965 SCV000833940 uncertain significance Fanconi anemia 2022-06-09 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 430 of the FANCA protein (p.Ala430Val). This variant is present in population databases (rs772567344, gnomAD 0.007%). This missense change has been observed in individual(s) with clinical features of FANCA-related conditions (PMID: 34573280). ClinVar contains an entry for this variant (Variation ID: 581207). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.
Natera, Inc. RCV000704965 SCV002095050 uncertain significance Fanconi anemia 2021-01-07 no assertion criteria provided clinical testing

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