Submissions for variant NM_001102564.3(IFT43):c.395A>T (p.Tyr132Phe)

gnomAD frequency: 0.00017  dbSNP: rs201692401

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001053275	SCV001217531	benign	not provided	2024-10-26	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002479324	SCV002776752	likely benign	Cranioectodermal dysplasia 3; Short-rib thoracic dysplasia 18 with polydactyly; Retinitis pigmentosa 81	2024-03-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004031679	SCV004886250	uncertain significance	not specified	2023-12-08	criteria provided, single submitter	clinical testing	The c.410A>T (p.Y137F) alteration is located in exon 6 (coding exon 6) of the IFT43 gene. This alteration results from a A to T substitution at nucleotide position 410, causing the tyrosine (Y) at amino acid position 137 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx	RCV001053275	SCV005333650	uncertain significance	not provided	2023-12-11	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