ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.796_797delinsGA (p.Thr266Glu)

dbSNP: rs2143585439
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001978317 SCV002273721 uncertain significance Fanconi anemia 2022-08-09 criteria provided, single submitter clinical testing 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: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). ClinVar contains an entry for this variant (Variation ID: 1489484). This variant has not been reported in the literature in individuals affected with FANCA-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change replaces threonine with glutamic acid at codon 266 of the FANCA protein (p.Thr266Glu). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and glutamic acid. 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.

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