ClinVar Miner

Submissions for variant NM_001384125.1(BLTP1):c.3046G>A (p.Gly1016Ser)

gnomAD frequency: 0.00032  dbSNP: rs186329526
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill RCV001374622 SCV001571468 uncertain significance Alkuraya-Kucinskas syndrome 2021-02-01 criteria provided, single submitter research The KIAA1109 c.3046G>A (p.Gly1016Ser) is a missense variant that changes a single amino acid in the encoded protein from glycine to serine. This variant is present in unselected individuals in the general population with a global minor allele frequency of 0.0276% (77/279,004 alleles, 0 homozygotes). To our knowledge, this variant has not been previously reported in affected individuals in the literature. The resulting amino acid change has conflicting predictions of pathogenicity by in silico tools and the effect on protein function is unknown. Without additional clinical or functional evidence, this variant is considered a variant of uncertain significance.
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001374622 SCV001984436 uncertain significance Alkuraya-Kucinskas syndrome 2020-10-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV004037613 SCV003945600 uncertain significance not specified 2023-03-17 criteria provided, single submitter clinical testing The c.3046G>A (p.G1016S) alteration is located in exon 24 (coding exon 24) of the KIAA1109 gene. This alteration results from a G to A substitution at nucleotide position 3046, causing the glycine (G) at amino acid position 1016 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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