Submissions for variant NM_001277115.2(DNAH11):c.2354T>C (p.Ile785Thr)

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003650203	SCV004519469	benign	Primary ciliary dyskinesia	2023-11-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003650203	SCV004858276	uncertain significance	Primary ciliary dyskinesia	2024-01-03	criteria provided, single submitter	clinical testing	The c.2354T>C (p.I785T) alteration is located in exon 14 (coding exon 14) of the DNAH11 gene. This alteration results from a T to C substitution at nucleotide position 2354, causing the isoleucine (I) at amino acid position 785 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences	RCV004738774	SCV005363148	uncertain significance	DNAH11-related disorder	2024-03-06	no assertion criteria provided	clinical testing	The DNAH11 c.2354T>C variant is predicted to result in the amino acid substitution p.Ile785Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0052% of alleles in individuals of East Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.