ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.160C>T (p.Pro54Ser)

gnomAD frequency: 0.00008  dbSNP: rs771294438
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001976858 SCV002267121 likely benign Saldino-Mainzer syndrome 2023-08-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV003170334 SCV003896005 uncertain significance Inborn genetic diseases 2023-02-06 criteria provided, single submitter clinical testing The c.160C>T (p.P54S) alteration is located in exon 4 (coding exon 2) of the IFT140 gene. This alteration results from a C to T substitution at nucleotide position 160, causing the proline (P) at amino acid position 54 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005016999 SCV005645326 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2024-04-18 criteria provided, single submitter clinical testing

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