ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.88G>C (p.Glu30Gln)

gnomAD frequency: 0.00002  dbSNP: rs373268822
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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 RCV000543548 SCV000626386 uncertain significance Fanconi anemia 2023-04-12 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. 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 456281). This variant has not been reported in the literature in individuals affected with FANCM-related conditions. This variant is present in population databases (rs373268822, gnomAD 0.0009%). This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 30 of the FANCM protein (p.Glu30Gln).
Fulgent Genetics, Fulgent Genetics RCV002497056 SCV002789585 uncertain significance Spermatogenic failure 28; Premature ovarian failure 15 2022-05-20 criteria provided, single submitter clinical testing

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