ClinVar Miner

Submissions for variant NM_005932.4(MIPEP):c.786+1G>C

gnomAD frequency: 0.00001  dbSNP: rs1408067328
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV001267652 SCV001445871 likely pathogenic Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome 2019-09-30 criteria provided, single submitter clinical testing This variant affects the canonical splice donor site of intron 6 and is therefore predicted to interfere with splicing and result in loss of normal protein function. This variant has not been previously reported or functionally characterized in the literature to our knowledge. It is present in the heterozygous state in the gnomAD population database at a frequency of 0.0004% (1/232334) and thus is presumed to be rare. The c.786+1G>C variant is predicted by multiple in silico tools to have a deleterious effect on protein function. Based on the available evidence, the c.786+1G>C variant is classified as a Likely Pathogenic.

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