ClinVar Miner

Submissions for variant NM_017736.5(THUMPD1):c.706C>T (p.Gln236Ter)

gnomAD frequency: 0.00002  dbSNP: rs778649204
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV001807783 SCV002056134 pathogenic Neurodevelopmental disorder 2021-12-15 criteria provided, single submitter research
Revvity Omics, Revvity RCV002274213 SCV003819517 uncertain significance Neurodevelopmental disorder with speech delay and variable ocular anomalies 2021-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004040924 SCV004965901 likely pathogenic Inborn genetic diseases 2023-12-01 criteria provided, single submitter clinical testing The c.706C>T (p.Q236*) alteration, located in exon 4 (coding exon 4) of the THUMPD1 gene, consists of a C to T substitution at nucleotide position 706. This changes the amino acid from a glutamine (Q) to a stop codon at amino acid position 236. This alteration occurs at the 3' terminus of the THUMPD1 gene, is not expected to trigger nonsense-mediated mRNA decay, and impacts the last 33% of the protein. Premature stop codons are typically deleterious in nature and a significant portion of the protein is affected. Based on data from gnomAD, the T allele has an overall frequency of 0.002% (5/250234) total alleles studied. The highest observed frequency was 0.016% (5/30606) of South Asian alleles. This variant has been reported homozygous in multiple individuals with features consistent with THUMPD1-related neurodevelopmental disorder (Maddirevula, 2019; Broly, 2022). Based on the available evidence, this alteration is classified as likely pathogenic.
OMIM RCV002274213 SCV002559868 pathogenic Neurodevelopmental disorder with speech delay and variable ocular anomalies 2022-08-10 no assertion criteria provided literature only

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