ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.1045A>G (p.Ser349Gly)

gnomAD frequency: 0.00009  dbSNP: rs368178771
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000471241 SCV000544983 likely benign Gorlin syndrome; Medulloblastoma 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000562404 SCV000675284 likely benign Hereditary cancer-predisposing syndrome 2023-02-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Eurofins Ntd Llc (ga) RCV000726658 SCV000702010 uncertain significance not provided 2016-10-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000763642 SCV000894513 uncertain significance Gorlin syndrome; Medulloblastoma; Familial meningioma; Joubert syndrome 32 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000726658 SCV002756761 uncertain significance not provided 2022-05-17 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Identified in healthy individuals undergoing whole genome sequencing (Bodian 2014); This variant is associated with the following publications: (PMID: 24311597, 24728327)
Baylor Genetics RCV003460861 SCV004205674 uncertain significance Familial meningioma 2024-03-15 criteria provided, single submitter clinical testing
ITMI RCV000122098 SCV000086313 not provided not specified 2013-09-19 no assertion provided reference population

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