ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.3938G>C (p.Ser1313Thr)

gnomAD frequency: 0.00004  dbSNP: rs771311008
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV003492195 SCV001139439 likely benign Hereditary cancer 2024-01-23 criteria provided, single submitter clinical testing
Invitae RCV001057419 SCV001221911 uncertain significance Fanconi anemia 2022-10-24 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. ClinVar contains an entry for this variant (Variation ID: 803020). This variant has not been reported in the literature in individuals affected with FANCM-related conditions. This variant is present in population databases (rs771311008, gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 1313 of the FANCM protein (p.Ser1313Thr).
Fulgent Genetics, Fulgent Genetics RCV002489459 SCV002797691 uncertain significance Spermatogenic failure 28; Premature ovarian failure 15 2021-08-23 criteria provided, single submitter clinical testing
GeneDx RCV003148902 SCV003837410 uncertain significance not provided 2023-07-31 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports 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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