ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.1774T>C (p.Tyr592His)

dbSNP: rs768325047
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000556442 SCV000626330 uncertain significance Fanconi anemia 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with histidine at codon 592 of the FANCG protein (p.Tyr592His). The tyrosine residue is highly conserved and there is a moderate physicochemical difference between tyrosine and histidine. This variant is present in population databases (rs768325047, ExAC 0.009%). This variant has not been reported in the literature in individuals affected with FANCG-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: "Deleterious"; 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.
Ambry Genetics RCV004975630 SCV005580632 uncertain significance Inborn genetic diseases 2024-11-18 criteria provided, single submitter clinical testing The p.Y592H variant (also known as c.1774T>C), located in coding exon 14 of the FANCG gene, results from a T to C substitution at nucleotide position 1774. The tyrosine at codon 592 is replaced by histidine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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