ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.1192C>T (p.Arg398Trp)

gnomAD frequency: 0.00004  dbSNP: rs752364451
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000547696 SCV000626349 uncertain significance Fanconi anemia 2023-03-15 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 456249). This variant has not been reported in the literature in individuals affected with FANCM-related conditions. This variant is present in population databases (rs752364451, gnomAD 0.006%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 398 of the FANCM protein (p.Arg398Trp).
Fulgent Genetics, Fulgent Genetics RCV000763927 SCV000894871 uncertain significance Spermatogenic failure 28; Premature ovarian failure 15 2021-11-02 criteria provided, single submitter clinical testing
Baylor Genetics RCV001292883 SCV001481570 uncertain significance Spermatogenic failure 28 2019-09-10 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001797097 SCV002038737 uncertain significance not provided 2024-10-22 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 individual(s) with ovarian cancer (PMID: 28881617); This variant is associated with the following publications: (PMID: 35413094, 28881617)

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