ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.937C>T (p.Arg313Cys)

dbSNP: rs372710600
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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 RCV000818077 SCV000958672 uncertain significance Fanconi anemia 2023-04-14 criteria provided, single submitter clinical testing This variant is present in population databases (rs372710600, gnomAD 0.04%). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 660798). This variant has not been reported in the literature in individuals affected with FANCM-related conditions. This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 313 of the FANCM protein (p.Arg313Cys).
Fulgent Genetics, Fulgent Genetics RCV002478909 SCV002790241 uncertain significance Spermatogenic failure 28; Premature ovarian failure 15 2021-12-02 criteria provided, single submitter clinical testing
GeneDx RCV003226984 SCV003923403 uncertain significance not provided 2024-05-03 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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