ClinVar Miner

Submissions for variant NM_001371986.1(UNC80):c.9179T>C (p.Ile3060Thr)

gnomAD frequency: 0.00004  dbSNP: rs1001497433
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001249750 SCV001423783 uncertain significance Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 2019-09-10 criteria provided, single submitter clinical testing The UNC80 c.8981T>C (p.Ile2994Thr) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is reported at a frequency of 0.001685 in the East Asian population from the Genome Aggregation Database. Based on the limited evidence, the p.Ile2994Thr variant is classified as a variant of unknown significance for UNC80 deficiency.
GeneDx RCV001773569 SCV002001819 uncertain significance not provided 2022-01-06 criteria provided, single submitter clinical testing Reported previously in the heterozygous state as a variant of uncertain significance in a newborn with epilepsy; parental segregation unavailable (Yang et al., 2020); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 27535533, 32712949)
Labcorp Genetics (formerly Invitae), Labcorp RCV001773569 SCV002212414 likely benign not provided 2025-02-02 criteria provided, single submitter clinical testing
New York Genome Center RCV001249750 SCV002548758 uncertain significance Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 2021-07-30 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001249750 SCV003828048 uncertain significance Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 2021-09-21 criteria provided, single submitter clinical testing

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