Submissions for variant NM_144666.3(DNHD1):c.10717G>T (p.Glu3573Ter)

dbSNP: rs763743788

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV001198253	SCV001369127	uncertain significance	See cases	2019-07-08	criteria provided, single submitter	clinical testing	This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: No criteria apply.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002561061	SCV003451019	pathogenic	not provided	2022-06-28	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Glu3573*) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 931574). For these reasons, this variant has been classified as Pathogenic.