ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.7G>T (p.Asp3Tyr)

dbSNP: rs1246636933
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000693528 SCV000821400 uncertain significance Fanconi anemia 2021-09-20 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with tyrosine at codon 3 of the FANCA protein (p.Asp3Tyr). The aspartic acid residue is weakly conserved and there is a large physicochemical difference between aspartic acid and tyrosine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. 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: "Probably 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.
Natera, Inc. RCV000693528 SCV002093170 uncertain significance Fanconi anemia 2019-10-28 no assertion criteria provided clinical testing

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