ClinVar Miner

Submissions for variant NM_004820.5(CYP7B1):c.59C>T (p.Pro20Leu)

dbSNP: rs537303950
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205382 SCV000259219 likely benign Spastic paraplegia 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000512932 SCV000609308 uncertain significance not provided 2019-12-01 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000512932 SCV001145781 uncertain significance not provided 2021-12-07 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001163749 SCV001325819 uncertain significance Hereditary spastic paraplegia 5A 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Mayo Clinic Laboratories, Mayo Clinic RCV000512932 SCV001713467 uncertain significance not provided 2021-11-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003955222 SCV004770297 likely benign CYP7B1-related disorder 2022-01-31 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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