ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.1091G>C (p.Cys364Ser)

gnomAD frequency: 0.00005  dbSNP: rs1257244524
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001062033 SCV001226802 uncertain significance Fanconi anemia 2022-03-17 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with serine, which is neutral and polar, at codon 364 of the FANCM protein (p.Cys364Ser). This variant is present in population databases (no rsID available, gnomAD 0.02%). 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: 856550). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.
Fulgent Genetics, Fulgent Genetics RCV002497447 SCV002790316 uncertain significance Spermatogenic failure 28; Premature ovarian failure 15 2021-08-31 criteria provided, single submitter clinical testing

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