ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.954GTT[1] (p.Leu320del) (rs755655903)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000461709 SCV000552378 likely benign Tuberous sclerosis 1 2020-12-04 criteria provided, single submitter clinical testing
GeneDx RCV000480298 SCV000572752 likely benign not specified 2017-01-11 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 RCV001019502 SCV001180870 uncertain significance Hereditary cancer-predisposing syndrome 2020-03-16 criteria provided, single submitter clinical testing The c.957_959delGTT variant (also known as p.L319del) is located in coding exon 8 of the TSC1 gene. This variant results from an in-frame GTT deletion at nucleotide positions 957 to 959. This results in the in-frame deletion of a leucine at codon 319. This nucleotide position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be neutral<span style="color:rgb(255, 0, 0)"> by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001285851 SCV001472352 uncertain significance none provided 2019-11-06 criteria provided, single submitter clinical testing The TSC1 c.957_959delGTT; p.Leu320del variant (rs755655903), also known as 954_956GTT[1], is reported in ClinVar (Variation ID: 411287). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant deletes a single leucine residue leaving the rest of the protein in-frame. Due to limited information, the clinical significance of this variant is uncertain at this time.
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000781950 SCV000920394 uncertain significance Seizures 2017-08-11 no assertion criteria provided clinical testing

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