ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3605A>G (p.Glu1202Gly)

gnomAD frequency: 0.00002  dbSNP: rs760330357
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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 RCV001303419 SCV001492665 uncertain significance Fanconi anemia 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glycine at codon 1202 of the FANCA protein (p.Glu1202Gly). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and glycine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with FANCA-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt FANCA 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.
Sema4, Sema4 RCV001303419 SCV002535016 uncertain significance Fanconi anemia 2022-02-25 criteria provided, single submitter curation
Natera, Inc. RCV001303419 SCV002092520 uncertain significance Fanconi anemia 2020-02-09 no assertion criteria provided clinical testing

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