ClinVar Miner

Submissions for variant NM_001018113.3(FANCB):c.2173A>G (p.Thr725Ala)

gnomAD frequency: 0.00001  dbSNP: rs765112491
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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 RCV001977267 SCV002267330 uncertain significance Fanconi anemia 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 725 of the FANCB protein (p.Thr725Ala). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and alanine. This variant is present in population databases (rs765112491, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with FANCB-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: "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.
Ambry Genetics RCV004976042 SCV005583476 uncertain significance Inborn genetic diseases 2024-10-21 criteria provided, single submitter clinical testing The c.2173A>G (p.T725A) alteration is located in exon 10 (coding exon 8) of the FANCB gene. This alteration results from a A to G substitution at nucleotide position 2173, causing the threonine (T) at amino acid position 725 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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