Submissions for variant NM_015662.3(IFT172):c.2770T>G (p.Ser924Ala)

gnomAD frequency: 0.00046  dbSNP: rs142409945

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000542399	SCV000656445	likely benign	Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000624406	SCV000741471	uncertain significance	Inborn genetic diseases	2021-07-23	criteria provided, single submitter	clinical testing	The c.2770T>G (p.S924A) alteration is located in exon 25 of the IFT172 gene. This alteration results from a T to G substitution at nucleotide position 2770, causing the serine (S) at amino acid position 924 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Baylor Genetics	RCV001336304	SCV001529654	uncertain significance	Retinitis pigmentosa 71	2018-02-14	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
PreventionGenetics, part of Exact Sciences	RCV003935549	SCV004751856	likely benign	IFT172-related condition	2022-07-22	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573188	SCV001798655	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001573188	SCV001975399	likely benign	not provided		no assertion criteria provided	clinical testing