ClinVar Miner

Submissions for variant NM_004820.5(CYP7B1):c.1A>G (p.Met1Val)

dbSNP: rs891749853
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268409 SCV001447322 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Invitae RCV001880166 SCV002311998 uncertain significance Spastic paraplegia 2022-05-20 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the CYP7B1 mRNA. The next in-frame methionine is located at codon 70. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CYP7B1-related conditions. ClinVar contains an entry for this variant (Variation ID: 987150). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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