ClinVar Miner

Submissions for variant NM_003900.5(SQSTM1):c.3G>A (p.Met1Ile)

gnomAD frequency: 0.00001  dbSNP: rs1309887153
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001977165 SCV002251864 uncertain significance Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of bone 2, early-onset 2021-05-10 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Disruption of the initiator codon has been observed in individual(s) with autosomal recessive neurodegeneration with ataxia, dystonia, and gaze palsy (PMID: 27545679). This variant is not present in population databases (ExAC no frequency). This sequence change affects the initiator methionine of the SQSTM1 mRNA. The next in-frame methionine is located at codon 85.

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