ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.2530C>T (p.His844Tyr)

dbSNP: rs2139242067
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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 RCV001363642 SCV001559763 uncertain significance Fanconi anemia 2020-02-24 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. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with FANCM-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces histidine with tyrosine at codon 844 of the FANCM protein (p.His844Tyr). The histidine residue is weakly conserved and there is a moderate physicochemical difference between histidine and tyrosine.
Fulgent Genetics, Fulgent Genetics RCV002488115 SCV002783135 uncertain significance Spermatogenic failure 28; Premature ovarian failure 15 2021-12-14 criteria provided, single submitter clinical testing
GeneDx RCV004779097 SCV005392430 uncertain significance not provided 2024-04-30 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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