ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.317G>C (p.Gly106Ala)

gnomAD frequency: 0.00001  dbSNP: rs764893807
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000547916 SCV000626183 uncertain significance Fanconi anemia 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 106 of the FANCA protein (p.Gly106Ala). This variant is present in population databases (rs764893807, gnomAD 0.03%). 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: 456110). 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.
Fulgent Genetics, Fulgent Genetics RCV000764092 SCV000895056 uncertain significance Fanconi anemia complementation group A 2018-10-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV000764092 SCV001522899 uncertain significance Fanconi anemia complementation group A 2019-11-05 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Natera, Inc. RCV000547916 SCV002090780 uncertain significance Fanconi anemia 2020-02-14 no assertion criteria provided clinical testing

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