ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.496G>A (p.Ala166Thr)

gnomAD frequency: 0.00004  dbSNP: rs369365858
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000350778 SCV000751823 uncertain significance Fanconi anemia 2024-01-17 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 166 of the FANCM protein (p.Ala166Thr). This variant is present in population databases (rs369365858, gnomAD 0.006%). This missense change has been observed in individual(s) with head and neck carcinoma (PMID: 2867840). ClinVar contains an entry for this variant (Variation ID: 313191). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
GeneDx RCV002461070 SCV002756537 uncertain significance not provided 2022-11-09 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in an individual with squamous cell carcinoma of the oral cavity (Chandrasekharappa et al., 2017); This variant is associated with the following publications: (PMID: 28678401)
Fulgent Genetics, Fulgent Genetics RCV002502227 SCV002806230 uncertain significance Spermatogenic failure 28; Premature ovarian failure 15 2022-05-25 criteria provided, single submitter clinical testing

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