ClinVar Miner

Submissions for variant NM_144666.3(DNHD1):c.2683C>T (p.Gln895Ter)

gnomAD frequency: 0.00024  dbSNP: rs929548279
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000994556 SCV001148168 uncertain significance not provided 2019-04-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000994556 SCV003469128 pathogenic not provided 2022-06-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln895*) in the DNHD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DNHD1 are known to be pathogenic (PMID: 34932939). This variant is present in population databases (no rsID available, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with DNHD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 806605). For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics, part of Exact Sciences RCV003392722 SCV004111049 uncertain significance DNHD1-related disorder 2023-06-06 criteria provided, single submitter clinical testing The DNHD1 c.2683C>T variant is predicted to result in premature protein termination (p.Gln895*). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.12% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/11-6555088-C-T). Loss of function is not an established mechanism of DNHD1-related disease. Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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