ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2458G>A (p.Ala820Thr)

dbSNP: rs2141185138
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002266464 SCV002548500 uncertain significance not specified 2022-05-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496205 SCV002792802 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2021-07-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV003101506 SCV003581899 uncertain significance Inborn genetic diseases 2021-10-22 criteria provided, single submitter clinical testing The c.2458G>A (p.A820T) alteration is located in exon 20 (coding exon 18) of the IFT140 gene. This alteration results from a G to A substitution at nucleotide position 2458, causing the alanine (A) at amino acid position 820 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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