Submissions for variant NM_014714.4(IFT140):c.4354G>A (p.Glu1452Lys)

gnomAD frequency: 0.00009  dbSNP: rs142106374

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001120218	SCV001278693	uncertain significance	Saldino-Mainzer syndrome	2017-04-28	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001120218	SCV001373783	likely benign	Saldino-Mainzer syndrome	2024-01-17	criteria provided, single submitter	clinical testing
Institute of Human Genetics, University of Leipzig Medical Center	RCV001784659	SCV002026367	uncertain significance	Retinitis pigmentosa 80	2021-11-04	criteria provided, single submitter	clinical testing	_x000D_ Criteria applied: PM2_SUP, PP3
Fulgent Genetics, Fulgent Genetics	RCV002505695	SCV002815896	uncertain significance	Saldino-Mainzer syndrome; Retinitis pigmentosa 80	2022-05-11	criteria provided, single submitter	clinical testing