ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.4986G>T (p.Lys1662Asn)

gnomAD frequency: 0.00009  dbSNP: rs151273573
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000703596 SCV000832504 uncertain significance Fanconi anemia 2023-09-27 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with FANCM-related conditions. This variant is present in population databases (rs151273573, gnomAD 0.03%). This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 1662 of the FANCM protein (p.Lys1662Asn). ClinVar contains an entry for this variant (Variation ID: 580138). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The asparagine 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 RCV001786413 SCV002028578 uncertain significance not provided 2023-03-03 criteria provided, single submitter clinical testing 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
Fulgent Genetics, Fulgent Genetics RCV002485748 SCV002801317 uncertain significance Spermatogenic failure 28; Premature ovarian failure 15 2022-03-04 criteria provided, single submitter clinical testing

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