ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1244T>C (p.Met415Thr)

gnomAD frequency: 0.00001  dbSNP: rs912838333
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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 RCV000690749 SCV000818451 uncertain significance Fanconi anemia 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 415 of the FANCA protein (p.Met415Thr). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FANCA-related conditions. ClinVar contains an entry for this variant (Variation ID: 569979). 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: "Deleterious"; PolyPhen-2: "Benign"; 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.
Revvity Omics, Revvity RCV003144509 SCV003833889 uncertain significance Fanconi anemia complementation group A 2020-12-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV000690749 SCV002095054 uncertain significance Fanconi anemia 2020-07-23 no assertion criteria provided clinical testing

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