ClinVar Miner

Submissions for variant NM_001164665.2(KIAA1549):c.1070C>A (p.Thr357Lys)

gnomAD frequency: 0.00001  dbSNP: rs117227363
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001907525 SCV002122448 uncertain significance not provided 2024-10-08 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with lysine, which is basic and polar, at codon 357 of the KIAA1549 protein (p.Thr357Lys). This variant is present in population databases (rs117227363, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with KIAA1549-related conditions. ClinVar contains an entry for this variant (Variation ID: 1361373). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Fulgent Genetics, Fulgent Genetics RCV002482509 SCV002789865 uncertain significance Retinitis pigmentosa 86 2022-05-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV003247065 SCV003941818 uncertain significance Inborn genetic diseases 2023-04-19 criteria provided, single submitter clinical testing The c.1070C>A (p.T357K) alteration is located in exon 2 (coding exon 2) of the KIAA1549 gene. This alteration results from a C to A substitution at nucleotide position 1070, causing the threonine (T) at amino acid position 357 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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