ClinVar Miner

Submissions for variant NM_001384125.1(BLTP1):c.11771C>T (p.Pro3924Leu)

gnomAD frequency: 0.00008  dbSNP: rs745511970
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001763056 SCV001989153 uncertain significance not provided 2019-08-09 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004601522 SCV005101979 uncertain significance not specified 2024-03-16 criteria provided, single submitter clinical testing The c.11507C>T (p.P3836L) alteration is located in exon 66 (coding exon 66) of the KIAA1109 gene. This alteration results from a C to T substitution at nucleotide position 11507, causing the proline (P) at amino acid position 3836 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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