ClinVar Miner

Submissions for variant NM_001367479.1(DNAH14):c.3697C>T (p.Gln1233Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology RCV003482203 SCV004227986 likely pathogenic Neurodevelopmental disorder 2024-01-05 criteria provided, single submitter clinical testing Recently compound heterozygous variations in the DNAH14 gene (MIM*603341) have been reported to cause an autosomal recessive neurodevelopmental disorder characterized by seizures, global developmental delay, microcephaly and hypotonia [PMID: 35438214]. The c.3697C>T variant is not present in publicly available population databases like 1000 Genomes, EVS, Indian Exome Database or our in-house exome database. The variant is present in ExAC and gnomAD at low frequencies. This variant has neither been published in literature for DNAH14-related conditions nor reported to clinical databases like ClinVar, OMIM or HGMD, in any affected individuals. In-silico pathogenicity prediction programs like MutationTaster2, CADD, Varsome, Franklin, etc predicted this variant to be likely deleterious. This variant creates a premature translational stop codon at the 1233rd amino acid position of the transcript that may either result in translation of a truncated protein or cause nonsense mediated decay of the mRNA.

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