ClinVar Miner

Submissions for variant NM_001329943.3(KIAA0586):c.2418G>C (p.Lys806Asn)

gnomAD frequency: 0.00001  dbSNP: rs922088604
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001901901 SCV002136959 uncertain significance Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 2022-08-16 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1362751). This variant has not been reported in the literature in individuals affected with KIAA0586-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 859 of the KIAA0586 protein (p.Lys859Asn).
Ambry Genetics RCV002550284 SCV003532053 uncertain significance Inborn genetic diseases 2021-05-24 criteria provided, single submitter clinical testing The c.2190G>C (p.K730N) alteration is located in exon 15 (coding exon 15) of the KIAA0586 gene. This alteration results from a G to C substitution at nucleotide position 2190, causing the lysine (K) at amino acid position 730 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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