ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.179G>A (p.Arg60Lys)

gnomAD frequency: 0.00022  dbSNP: rs148093208
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001340494 SCV001534307 likely benign Saldino-Mainzer syndrome 2024-10-26 criteria provided, single submitter clinical testing
GeneDx RCV001773680 SCV001992876 uncertain significance not provided 2019-07-03 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002504533 SCV002815901 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2024-06-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV004035941 SCV004885930 uncertain significance Inborn genetic diseases 2024-03-01 criteria provided, single submitter clinical testing The c.179G>A (p.R60K) alteration is located in exon 4 (coding exon 2) of the IFT140 gene. This alteration results from a G to A substitution at nucleotide position 179, causing the arginine (R) at amino acid position 60 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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