ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.1114C>G (p.Pro372Ala)

gnomAD frequency: 0.00001  dbSNP: rs760638759
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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 RCV001230625 SCV001403109 likely benign Tuberous sclerosis 1 2024-06-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436895 SCV002746274 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-03 criteria provided, single submitter clinical testing The p.P372A variant (also known as c.1114C>G), located in coding exon 9 of the TSC1 gene, results from a C to G substitution at nucleotide position 1114. The proline at codon 372 is replaced by alanine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. 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.
Fulgent Genetics, Fulgent Genetics RCV002504308 SCV002806222 uncertain significance Lymphangiomyomatosis; Tuberous sclerosis 1; Isolated focal cortical dysplasia type II 2021-12-09 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004004835 SCV004840484 uncertain significance Tuberous sclerosis syndrome 2024-01-11 criteria provided, single submitter clinical testing This missense variant replaces proline with alanine at codon 372 of the TSC1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 1/31390 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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