ClinVar Miner

Submissions for variant NM_000100.4(CSTB):c.1_2insAT (p.Met1fs)

gnomAD frequency: 0.00001  dbSNP: rs1044894207
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485922 SCV000573169 pathogenic not provided 2021-12-07 criteria provided, single submitter clinical testing Initiation codon variant in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000688580 SCV000816199 uncertain significance Progressive myoclonic epilepsy 2021-12-08 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the CSTB mRNA. The next in-frame methionine is located at codon 2. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CSTB-related conditions. ClinVar contains an entry for this variant (Variation ID: 423466). 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.
Athena Diagnostics RCV000485922 SCV002771371 likely pathogenic not provided 2022-08-04 criteria provided, single submitter clinical testing The frequency of this variant in the general population is consistent with pathogenicity (http://gnomad.broadinstitute.org). This variant disrupts the translation initiation codon and is predicted to interfere with protein translation. In multiple individuals, this variant has been seen with a single recessive pathogenic variant in the same gene, suggesting this variant may also be pathogenic.
Mayo Clinic Laboratories, Mayo Clinic RCV000485922 SCV004225547 uncertain significance not provided 2023-05-24 criteria provided, single submitter clinical testing

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