ClinVar Miner

Submissions for variant NM_001384125.1(BLTP1):c.1498+4A>G

gnomAD frequency: 0.00004  dbSNP: rs750465235
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522188 SCV000619793 uncertain significance not provided 2017-08-03 criteria provided, single submitter clinical testing The c.1498+4A>G variant in the KIAA1109 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. Some in-silico splice prediction models predict that c.1498+4A>G may damage or destroy the splice donor site in intron 13, which is expected to cause abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of c.1498+4A>G in this individual is unknown. The c.1498+4A>G variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.1498+4A>G as a variant of uncertain significance.
Ambry Genetics RCV004023588 SCV004913143 uncertain significance not specified 2022-02-28 criteria provided, single submitter clinical testing The c.1498+4A>G intronic alteration consists of a A to G substitution 4 nucleotides after exon 13 of the KIAA1109 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV000522188 SCV005190254 uncertain significance not provided criteria provided, single submitter not provided

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