ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.775A>G (p.Ile259Val)

gnomAD frequency: 0.00009  dbSNP: rs150256536
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000799839 SCV000939521 uncertain significance Fanconi anemia 2025-01-02 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 259 of the FANCM protein (p.Ile259Val). This variant is present in population databases (rs150256536, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with FANCM-related conditions. ClinVar contains an entry for this variant (Variation ID: 645698). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV001585725 SCV001819474 uncertain significance not provided 2024-12-21 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 28881617, 26689913)
Fulgent Genetics, Fulgent Genetics RCV002487684 SCV002780527 uncertain significance Spermatogenic failure 28; Premature ovarian failure 15 2022-01-26 criteria provided, single submitter clinical testing

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