ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.524T>C (p.Val175Ala)

gnomAD frequency: 0.00001  dbSNP: rs1415895533
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000546386 SCV000641661 benign Tuberous sclerosis 1 2024-01-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV001023799 SCV001185720 uncertain significance Hereditary cancer-predisposing syndrome 2024-01-19 criteria provided, single submitter clinical testing The p.V175A variant (also known as c.524T>C), located in coding exon 5 of the TSC1 gene, results from a T to C substitution at nucleotide position 524. The valine at codon 175 is replaced by alanine, an amino acid with similar properties. This alteration was identified in a Chinese individual diagnosed with tuberous sclerosis complex (Meng Y et al. J Hum Genet, 2021 Mar;66:227-236). This amino acid position is poorly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV000546386 SCV002040160 likely benign Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000546386 SCV005406132 likely benign Tuberous sclerosis 1 2024-08-23 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.

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