ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.1237T>C (p.Tyr413His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000763928 SCV000894872 uncertain significance SPERMATOGENIC FAILURE 28; PREMATURE OVARIAN FAILURE 15 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000688866 SCV000816493 uncertain significance Fanconi anemia 2018-12-17 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with histidine at codon 413 of the FANCM protein (p.Tyr413His). The tyrosine residue is moderately conserved and there is a moderate physicochemical difference between tyrosine and histidine. This variant is present in population databases (rs138225703, ExAC 0.1%). This variant has not been reported in the literature in individuals with FANCM-related disease. 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. 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.

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