ClinVar Miner

Submissions for variant NM_025233.7(COASY):c.1486-3C>G

gnomAD frequency: 0.00001  dbSNP: rs577714887
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences RCV000735979 SCV001439207 likely pathogenic Pontocerebellar hypoplasia, type 12 criteria provided, single submitter research Analysis of the exome sequencing data showed a novel homozygous sequence variant in COASY gene. This variant is predicted as Disease causing by MutationTaster. Sanger sequencing confirmed the variation in the proband. Parents were heterozygous for the same variation.
OMIM RCV000735979 SCV000864178 pathogenic Pontocerebellar hypoplasia, type 12 2019-01-09 no assertion criteria provided literature only

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