ClinVar Miner

Submissions for variant NM_012309.5(SHANK2):c.2521C>T (p.Arg841Ter)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratoire de Génétique Moléculaire, CHU Bordeaux RCV001281612 SCV001468940 pathogenic not provided criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001813820 SCV002061765 pathogenic Autism, susceptibility to, 17 2021-12-09 criteria provided, single submitter clinical testing PVS1, PS2, PM2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV001813820 SCV005086058 pathogenic Autism, susceptibility to, 17 2023-12-21 criteria provided, single submitter clinical testing Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with autism susceptibility 17 (MIM#613436). (I) 0107 - This gene is associated with autosomal dominant disease. (I) 0201 - Variant is predicted to cause nonsense-mediated decay (NMD) and loss of protein (premature termination codon is located at least 54 nucleotides upstream of the final exon-exon junction). (SP) 0251 - This variant is heterozygous. (I) 0301 - Variant is absent from gnomAD (both v2 and v3). (SP) 0701 - Other NMD-predicted variants comparable to the one identified in this case have very strong previous evidence for pathogenicity (DECIPHER). (SP) 0801 - This variant has strong previous evidence of pathogenicity in unrelated individuals. This variant has been classified as pathogenic by clinical laboratories in ClinVar, and has been observed as de novo in two individuals with autism spectrum disorder (PMIDs: 20473310, 28263302). (SP) 1203 - This variant has been shown to be de novo in the proband (parental status confirmed) (by trio analysis). (SP) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign
OMIM RCV001813820 SCV000027087 risk factor Autism, susceptibility to, 17 2010-06-01 no assertion criteria provided literature only

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