ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5254C>T (p.Gln1752Ter) (rs45517414)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000271618 SCV000329792 pathogenic not provided 2017-08-18 criteria provided, single submitter clinical testing The Q1752X nonsense variant has been previously reported in association with tuberous sclerosis (Au et al., 2007; TSC2 LOVD). This variant is predicted to cause loss of normal protein function through protein truncation as the last 56 amino acids are lost. The Q1752X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Additionally, many other nonsense variants have been reported in Human Gene Mutation Database in association with tuberous sclerosis (Stenson et al., 2014). Therefore, the presence of the Q1752X pathogenic variant is consistent with a diagnosis of tuberous sclerosis
Athena Diagnostics Inc RCV000271618 SCV000615925 pathogenic not provided 2016-12-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716649 SCV000847491 pathogenic History of neurodevelopmental disorder 2016-08-09 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense);Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation;Rarity in general population databases (dbsnp, esp, 1000 genomes)
Tuberous sclerosis database (TSC2) RCV000042627 SCV000066421 not provided Tuberous sclerosis syndrome no assertion provided curation

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