ClinVar Miner

Submissions for variant NM_001145358.2(SIN3A):c.1411C>T (p.Arg471Ter)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV002471962 SCV002767647 pathogenic SIN3A-related intellectual disability syndrome 2020-05-21 criteria provided, single submitter clinical testing Based on the classification scheme VCGS_Germline_v1.1.1, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss-of-function is a known mechanism of disease for this gene. (N) 0107 - This gene is known to be associated with autosomal dominant disease. (N) 0201 - Variant is predicted to cause nonsense-mediated decay (NMD) and loss of protein (exon 10 of 21). (P) 0251 - Variant is heterozygous. (N) 0301 - Variant is absent from gnomAD. (P) 0701 - Comparable NMD causing variants have very strong previous evidence for pathogenicity (Decipher, ClinVar). (P) 0807 - Variant has not previously been reported in a clinical context. (N) 0905 - No segregation evidence has been identified for this variant. (N) 1007 - No published functional evidence has been identified for this variant. (N) 1208 - Inheritance information for this variant is not currently available. (N) Legend: (P) - Pathogenic, (N) - Neutral, (B) - Benign
Labcorp Genetics (formerly Invitae), Labcorp RCV002571474 SCV003225344 pathogenic not provided 2022-08-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with SIN3A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg471*) in the SIN3A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SIN3A are known to be pathogenic (PMID: 27399968).
GeneDx RCV002571474 SCV003918767 pathogenic not provided 2023-04-12 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 36758531, 27535533)
Baylor Genetics RCV004565611 SCV005049790 pathogenic SIN3A-related intellectual disability syndrome due to a point mutation 2024-01-10 criteria provided, single submitter clinical testing

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