ClinVar Miner

Submissions for variant NM_001384125.1(BLTP1):c.11827G>T (p.Gly3943Cys)

dbSNP: rs201638195
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523574 SCV000619264 uncertain significance not provided 2017-07-31 criteria provided, single submitter clinical testing The G3855C variant in the KIAA1109 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G3855C 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). The G3855C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret G3855C as a variant of uncertain significance.
Ambry Genetics RCV004601193 SCV005101976 uncertain significance not specified 2024-03-28 criteria provided, single submitter clinical testing The c.11563G>T (p.G3855C) alteration is located in exon 66 (coding exon 66) of the KIAA1109 gene. This alteration results from a G to T substitution at nucleotide position 11563, causing the glycine (G) at amino acid position 3855 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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