ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.1342C>T (p.Pro448Ser) (rs118203518)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000122189 SCV000169084 benign not specified 2013-12-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000130698 SCV000185585 benign Hereditary cancer-predisposing syndrome 2014-09-24 criteria provided, single submitter clinical testing Intact protein function observed in appropriate functional assay(s);Subpopulation frequency in support of benign classification;In silico models in agreement (benign)
Invitae RCV000203929 SCV000261642 benign Tuberous sclerosis 1 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000122189 SCV000303847 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000332357 SCV000478235 likely benign Focal cortical dysplasia type II 2018-02-02 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000203929 SCV000478236 likely benign Tuberous sclerosis 1 2018-02-02 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Tuberous sclerosis database (TSC1) RCV000042017 SCV000065799 not provided Tuberous sclerosis syndrome no assertion provided curation
Tuberous sclerosis database (TSC1) RCV000054961 SCV000083178 not provided Autism spectrum disorder no assertion provided curation
ITMI RCV000122189 SCV000086406 not provided not specified 2013-09-19 no assertion provided reference population

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