ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.479T>A (p.Ile160Asn)

gnomAD frequency: 0.00001  dbSNP: rs781618421
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001346222 SCV001540403 uncertain significance Fanconi anemia 2021-06-05 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with FANCM-related conditions. This variant is present in population databases (rs781618421, ExAC 0.009%). This sequence change replaces isoleucine with asparagine at codon 160 of the FANCM protein (p.Ile160Asn). The isoleucine residue is moderately conserved and there is a large physicochemical difference between isoleucine and asparagine.
Fulgent Genetics, Fulgent Genetics RCV002499693 SCV002791996 uncertain significance Spermatogenic failure 28; Premature ovarian failure 15 2021-10-16 criteria provided, single submitter clinical testing

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