ClinVar Miner

Submissions for variant NM_020800.3(IFT80):c.1583G>T (p.Arg528Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004987706 SCV005604357 uncertain significance Inborn genetic diseases 2024-10-07 criteria provided, single submitter clinical testing The c.1583G>T (p.R528L) alteration is located in exon 15 (coding exon 14) of the IFT80 gene. This alteration results from a G to T substitution at nucleotide position 1583, causing the arginine (R) at amino acid position 528 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005023774 SCV005660371 uncertain significance Asphyxiating thoracic dystrophy 2 2024-06-09 criteria provided, single submitter clinical testing

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