ClinVar Miner

Submissions for variant NM_032504.1(UNC80):c.8574+2T>G (rs1553621496)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network,NIH RCV000535565 SCV000622165 likely pathogenic Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 2016-04-15 no assertion criteria provided clinical testing A homozygous variant in the UNC80 gene was identified. Loss of function variants in the UNC80 gene are associated with autosomal recessive infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2) [MIM: 616801]. The homozygous variant NM_032504.1:c.8574+2T>G in UNC80 has not been previously observed in the general population (ExAC or gnomAD). This variant is predicted to result in a loss of function of the UNC80 gene product, and is thus likely to be pathogenic. This variant has not previously been reported in the literature in individuals with this condition. This variant was confirmed using Sanger sequencing as an alternate methodology.

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