ClinVar Miner

Submissions for variant NM_000100.3(CSTB):c.1_2insAT (p.Met1fs) (rs1044894207)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485922 SCV000573169 likely pathogenic not provided 2017-09-20 criteria provided, single submitter clinical testing A variant that is likely pathogenic has been identified in the CSTB gene. The c.1_2insAT variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.1_2insAT variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This insertion alters the initiator Methionine codon, and the resultant protein would be described as p.Met1?" to signify that it is not known if the loss of Met1 means that all protein translation is completely prevented or if a protein is produced using an alternative Methionine initiator codon. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded."
Invitae RCV000688580 SCV000816199 uncertain significance Progressive myoclonic epilepsy 2018-03-05 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. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with CSTB-related disease. ClinVar contains an entry for this variant (Variation ID: 423466). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the disrupted amino acid 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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