ClinVar Miner

Submissions for variant NM_005932.4(MIPEP):c.358G>A (p.Asp120Asn)

gnomAD frequency: 0.00001  dbSNP: rs780533096
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000708592 SCV000837719 likely pathogenic Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome 2018-01-04 criteria provided, single submitter clinical testing
GeneDx RCV004588154 SCV005079389 likely pathogenic not provided 2023-11-29 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31607746)

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