ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4330C>G (p.Pro1444Ala)

gnomAD frequency: 0.00001  dbSNP: rs1459518095
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000574628 SCV000675610 likely benign Hereditary cancer-predisposing syndrome 2024-02-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV000706031 SCV000835058 benign Tuberous sclerosis 2 2023-12-14 criteria provided, single submitter clinical testing
Baylor Genetics RCV000706031 SCV001520800 uncertain significance Tuberous sclerosis 2 2019-01-03 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genome-Nilou Lab RCV000706031 SCV002040823 uncertain significance Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000706031 SCV004360919 uncertain significance Tuberous sclerosis 2 2023-05-12 criteria provided, single submitter clinical testing This missense variant replaces proline with alanine at codon 1444 of the TSC2 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 TSC2-related disorders in the literature. This variant has been identified in 1/239996 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.
GeneDx RCV004760624 SCV005369336 uncertain significance not provided 2023-11-16 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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