ClinVar Miner

Submissions for variant NM_201548.5(CERKL):c.2T>C (p.Met1Thr)

dbSNP: rs1187991259
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000823214 SCV000964065 pathogenic not provided 2022-02-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the CERKL protein in which other variant(s) (p.Cys125Trp) have been determined to be pathogenic (PMID: 20554613, 24498393, 29068140). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 665011). Disruption of the initiator codon has been observed in individual(s) with CERKL-related disease (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change affects the initiator methionine of the CERKL mRNA. The next in-frame methionine is located at codon 206.
Natera, Inc. RCV001277038 SCV001463773 likely pathogenic Retinitis pigmentosa 26 2020-09-16 no assertion criteria provided clinical testing

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