ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2828C>T (p.Pro943Leu)

dbSNP: rs200561100
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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 RCV001208700 SCV001380104 likely benign Saldino-Mainzer syndrome 2023-10-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504245 SCV002798250 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2024-05-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV004033739 SCV004886184 uncertain significance Inborn genetic diseases 2023-10-16 criteria provided, single submitter clinical testing The c.2828C>T (p.P943L) alteration is located in exon 22 (coding exon 20) of the IFT140 gene. This alteration results from a C to T substitution at nucleotide position 2828, causing the proline (P) at amino acid position 943 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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