Submissions for variant NM_052989.3(IFT122):c.3487T>A (p.Phe1163Ile)

gnomAD frequency: 0.00057  dbSNP: rs200606803

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000294633	SCV000336037	uncertain significance	not provided	2015-10-02	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000794465	SCV000440851	uncertain significance	Cranioectodermal dysplasia 1	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000794465	SCV000933875	likely benign	Cranioectodermal dysplasia 1	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000294633	SCV001805541	uncertain significance	not provided	2023-05-10	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278283	SCV002566839	likely benign	Connective tissue disorder	2022-06-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003278736	SCV003960314	uncertain significance	Inborn genetic diseases	2023-04-07	criteria provided, single submitter	clinical testing	The c.3640T>A (p.F1214I) alteration is located in exon 30 (coding exon 30) of the IFT122 gene. This alteration results from a T to A substitution at nucleotide position 3640, causing the phenylalanine (F) at amino acid position 1214 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen	RCV000294633	SCV004155510	uncertain significance	not provided	2024-08-01	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV000794465	SCV004809434	uncertain significance	Cranioectodermal dysplasia 1	2024-04-04	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000294633	SCV005189777	uncertain significance	not provided		criteria provided, single submitter	not provided