ClinVar Miner

Submissions for variant NM_018685.5(ANLN):c.31C>T (p.Arg11Ter)

gnomAD frequency: 0.00023  dbSNP: rs200989750
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001855841 SCV002270163 uncertain significance not provided 2024-12-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg11*) in the ANLN gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in ANLN cause disease. This variant is present in population databases (rs200989750, gnomAD 0.06%), and has an allele count higher than expected for a pathogenic variant. This premature translational stop signal has been observed in individual(s) with focal segmental glomerulosclerosis (PMID: 29869118). ClinVar contains an entry for this variant (Variation ID: 599127). 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.
Fulgent Genetics, Fulgent Genetics RCV000735725 SCV002798275 uncertain significance Focal segmental glomerulosclerosis 8 2022-02-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001855841 SCV005188496 uncertain significance not provided criteria provided, single submitter not provided
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000735725 SCV005912002 uncertain significance Focal segmental glomerulosclerosis 8 2022-05-12 criteria provided, single submitter research
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000735725 SCV000863878 uncertain significance Focal segmental glomerulosclerosis 8 2018-05-17 no assertion criteria provided clinical testing
GenomeConnect, ClinGen RCV000735725 SCV000986931 not provided Focal segmental glomerulosclerosis 8 no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 07/26/2017 by GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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