ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3956A>T (p.Asp1319Val)

dbSNP: rs45517322
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000541237 SCV000644491 benign Tuberous sclerosis 2 2023-05-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764029 SCV000894983 uncertain significance Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV001021518 SCV001183144 uncertain significance Hereditary cancer-predisposing syndrome 2022-12-19 criteria provided, single submitter clinical testing The p.D1319V variant (also known as c.3956A>T), located in coding exon 32 of the TSC2 gene, results from an A to T substitution at nucleotide position 3956. The aspartic acid at codon 1319 is replaced by valine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV000541237 SCV002040798 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001021518 SCV002533472 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-27 criteria provided, single submitter curation
Tuberous sclerosis database (TSC2) RCV000042782 SCV000066578 not provided Tuberous sclerosis syndrome no assertion provided curation

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