ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.1542_1543delinsCA (p.Ser515Thr)

dbSNP: rs2133726080
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001943357 SCV002180418 uncertain significance Genitopatellar syndrome 2022-07-25 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1413103). 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with KAT6B-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 515 of the KAT6B protein (p.Ser515Thr).

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