ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4738C>T (p.Arg1580Trp)

gnomAD frequency: 0.00001  dbSNP: rs777592623
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001081117 SCV000815118 likely benign Tuberous sclerosis 2 2024-10-21 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000687545 SCV001146287 uncertain significance not provided 2019-06-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001081117 SCV002040219 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002334263 SCV002639335 uncertain significance Hereditary cancer-predisposing syndrome 2022-08-22 criteria provided, single submitter clinical testing The p.R1580W variant (also known as c.4738C>T), located in coding exon 36 of the TSC2 gene, results from a C to T substitution at nucleotide position 4738. The arginine at codon 1580 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is poorly conserved in available vertebrate species. One functional study reported that this variant behaved similarly to wild-type as assessed by GAP activity levels (Hansmann P. et al. Structure. 2020 08;28(8):933-942). In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003459674 SCV004205103 uncertain significance Isolated focal cortical dysplasia type II 2024-02-22 criteria provided, single submitter clinical testing

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