Submissions for variant NM_024753.5(TTC21B):c.2326A>G (p.Ile776Val)

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002686591	SCV003530046	uncertain significance	Inborn genetic diseases	2022-03-16	criteria provided, single submitter	clinical testing	The c.2326A>G (p.I776V) alteration is located in exon 18 (coding exon 18) of the TTC21B gene. This alteration results from a A to G substitution at nucleotide position 2326, causing the isoleucine (I) at amino acid position 776 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx	RCV004763556	SCV005371971	uncertain significance	not provided	2023-08-14	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Fulgent Genetics, Fulgent Genetics	RCV005028336	SCV005651257	uncertain significance	Asphyxiating thoracic dystrophy 4; Nephronophthisis 12	2024-05-03	criteria provided, single submitter	clinical testing