ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.704G>A (p.Ser235Asn)

gnomAD frequency: 0.00001  dbSNP: rs397514957
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000570091 SCV000675662 likely benign Hereditary cancer-predisposing syndrome 2017-04-13 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 RCV000865248 SCV001006184 benign Tuberous sclerosis 2 2025-01-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000865248 SCV002041253 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000865248 SCV004016165 likely benign Tuberous sclerosis 2 2023-07-07 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000865248 SCV005082606 benign Tuberous sclerosis 2 2024-06-05 criteria provided, single submitter clinical testing This variant is considered benign. Homozygosity has been confirmed in one or more individuals. As homozygosity for pathogenic variants in this gene is generally assumed to result in embryonic lethality, this variant is unlikely to be pathogenic. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.
All of Us Research Program, National Institutes of Health RCV000055145 SCV005427049 likely benign Tuberous sclerosis syndrome 2024-02-22 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000055145 SCV000083363 not provided Tuberous sclerosis syndrome no assertion provided curation

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