ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.83G>T (p.Gly28Val)

dbSNP: rs1885470299
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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 RCV001043507 SCV001207257 uncertain significance Fanconi anemia 2022-01-26 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 841311). 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. 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. This variant has not been reported in the literature in individuals affected with FANCM-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 28 of the FANCM protein (p.Gly28Val).
Fulgent Genetics, Fulgent Genetics RCV002481905 SCV002789947 uncertain significance Spermatogenic failure 28; Premature ovarian failure 15 2022-05-24 criteria provided, single submitter clinical testing

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