ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5311C>G (p.Pro1771Ala)

gnomAD frequency: 0.00002  dbSNP: rs777006583
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000561599 SCV000675616 likely benign Hereditary cancer-predisposing syndrome 2023-05-16 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.
GeneDx RCV000609138 SCV000727176 likely benign not specified 2018-02-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000798867 SCV000938505 benign Tuberous sclerosis 2 2024-12-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000798867 SCV002040282 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003736826 SCV004562729 uncertain significance not provided 2023-10-10 criteria provided, single submitter clinical testing The TSC2 c.5311C>G; p.Pro1771Ala variant (rs777006583), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 486616). This variant is found in the general population with an overall allele frequency of 0.0016% (4/250168 alleles) in the Genome Aggregation Database. Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.526). Due to limited information, the clinical significance of this variant is uncertain at this time.

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