Submissions for variant NM_001270974.2(HYDIN):c.9223C>T (p.Arg3075Cys)

gnomAD frequency: 0.00149  dbSNP: rs199706377

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001573289	SCV002540559	uncertain significance	not provided	2022-07-01	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Johns Hopkins Genomics, Johns Hopkins University	RCV002282565	SCV002570354	uncertain significance	Primary ciliary dyskinesia 5	2022-08-19	criteria provided, single submitter	clinical testing	This HYDIN missense variant (rs199706377) is present in a large population dataset (gnomAD v3.1.2: 223/150244 total alleles; 0.15%; no homozygotes). It has been reported in ClinVar (Variation ID 1206104), but has not been reported in the literature, to our knowledge. Two bioinformatic tools queried predict that this substitution would be damaging, and the arginine residue at this position is evolutionarily conserved across many of the species assessed. We consider the clinical significance of c.9223C>T in HYDIN to be uncertain at this time.
CeGaT Center for Human Genetics Tuebingen	RCV001573289	SCV004140147	likely benign	not provided	2025-01-01	criteria provided, single submitter	clinical testing	HYDIN: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001573289	SCV005193495	uncertain significance	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573289	SCV001798931	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001573289	SCV001973240	uncertain significance	not provided		no assertion criteria provided	clinical testing