ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.1111T>C (p.Tyr371His)

dbSNP: rs2503102567
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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 RCV002770926 SCV003032744 uncertain significance Fanconi anemia 2022-10-03 criteria provided, single submitter clinical testing 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. This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 371 of the FANCM protein (p.Tyr371His). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FANCM-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated.
Ambry Genetics RCV005333344 SCV006004377 uncertain significance Inborn genetic diseases 2025-03-08 criteria provided, single submitter clinical testing The p.Y371H variant (also known as c.1111T>C), located in coding exon 6 of the FANCM gene, results from a T to C substitution at nucleotide position 1111. The tyrosine at codon 371 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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