ClinVar Miner

Submissions for variant NM_001164665.2(KIAA1549):c.2132C>T (p.Pro711Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dept Of Ophthalmology, Nagoya University RCV003891174 SCV004704860 likely pathogenic Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Ambry Genetics RCV004369718 SCV004893540 uncertain significance Inborn genetic diseases 2023-12-30 criteria provided, single submitter clinical testing The c.2132C>T (p.P711L) alteration is located in exon 2 (coding exon 2) of the KIAA1549 gene. This alteration results from a C to T substitution at nucleotide position 2132, causing the proline (P) at amino acid position 711 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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