ClinVar Miner

Submissions for variant NM_001384125.1(BLTP1):c.10451T>C (p.Ile3484Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003133867 SCV003812125 uncertain significance Alkuraya-Kucinskas syndrome 2019-03-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV004887718 SCV005538123 uncertain significance not specified 2024-11-08 criteria provided, single submitter clinical testing The c.10451T>C (p.I3484T) alteration is located in exon 59 (coding exon 59) of the KIAA1109 gene. This alteration results from a T to C substitution at nucleotide position 10451, causing the isoleucine (I) at amino acid position 3484 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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