ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.486A>T (p.Leu162Phe)

dbSNP: rs779677132
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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 RCV001935550 SCV002197356 uncertain significance Fanconi anemia 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 162 of the FANCG protein (p.Leu162Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is present in population databases (rs779677132, ExAC 0.002%). 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: "Tolerated"; 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 RCV002556422 SCV003662035 uncertain significance Inborn genetic diseases 2022-11-18 criteria provided, single submitter clinical testing The c.486A>T (p.L162F) alteration is located in exon 4 (coding exon 4) of the FANCG gene. This alteration results from a A to T substitution at nucleotide position 486, causing the leucine (L) at amino acid position 162 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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