ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.3190del (p.Ser1064fs)

dbSNP: rs778191984
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001384271 SCV001583703 pathogenic Fanconi anemia 2023-01-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1071739). This variant has not been reported in the literature in individuals affected with FANCM-related conditions. This variant is present in population databases (rs778191984, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Ser1064Valfs*31) in the FANCM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCM are known to be pathogenic (PMID: 29895858, 30075111).

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