ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.3436G>A (p.Asp1146Asn)

gnomAD frequency: 0.00002  dbSNP: rs142077813
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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 RCV001068292 SCV001233395 uncertain significance Fanconi anemia 2022-10-03 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 1146 of the FANCM protein (p.Asp1146Asn). This variant is present in population databases (rs142077813, gnomAD 0.01%). 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: 861716). 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. 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 RCV001664657 SCV001874214 uncertain significance not provided 2021-02-15 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Fulgent Genetics, Fulgent Genetics RCV002480429 SCV002777573 uncertain significance Spermatogenic failure 28; Premature ovarian failure 15 2021-09-15 criteria provided, single submitter clinical testing

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