ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.4375G>T (p.Asp1459Tyr)

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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 RCV003220334 SCV003914080 uncertain significance Inborn genetic diseases 2023-03-02 criteria provided, single submitter clinical testing The c.4375G>T (p.D1459Y) alteration is located in exon 31 (coding exon 29) of the IFT140 gene. This alteration results from a G to T substitution at nucleotide position 4375, causing the aspartic acid (D) at amino acid position 1459 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005012808 SCV005642685 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2024-06-05 criteria provided, single submitter clinical testing

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