ClinVar Miner

Submissions for variant NM_016004.5(IFT52):c.1189C>T (p.Pro397Ser)

gnomAD frequency: 0.00004  dbSNP: rs764053825
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002244203 SCV002512571 uncertain significance Short-rib thoracic dysplasia 16 with or without polydactyly 2021-07-06 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderate, BP4 supporting
Ambry Genetics RCV004631983 SCV005121120 uncertain significance not specified 2024-04-04 criteria provided, single submitter clinical testing The c.1189C>T (p.P397S) alteration is located in exon 13 (coding exon 12) of the IFT52 gene. This alteration results from a C to T substitution at nucleotide position 1189, causing the proline (P) at amino acid position 397 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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