ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.895_896insTGTGT (p.Arg299fs)

dbSNP: rs1564698850
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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 RCV000695755 SCV000824273 pathogenic Gorlin syndrome; Medulloblastoma 2018-08-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SUFU are known to be pathogenic (PMID: 22508808, 25403219). This variant has not been reported in the literature in individuals with SUFU-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg299Leufs*16) in the SUFU gene. It is expected to result in an absent or disrupted protein product.
PreventionGenetics, part of Exact Sciences RCV004737958 SCV005362355 likely pathogenic SUFU-related disorder 2024-09-20 no assertion criteria provided clinical testing The SUFU c.895_896insTGTGT variant is predicted to result in a frameshift and premature protein termination (p.Arg299Leufs*16). To our knowledge, this variant has not been reported in the literature. This variant has not been reported in a large population database, indicating this variant is rare. This variant is interpreted as pathogenic in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/573948/). Frameshift variants in SUFU are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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