ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.1561G>A (p.Asp521Asn)

dbSNP: rs2065787303
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001228395 SCV001400793 uncertain significance Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 2019-08-23 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 521 of the TBC1D24 protein (p.Asp521Asn). The aspartic acid residue is moderately conserved and there is a small physicochemical difference between aspartic acid and asparagine. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with TBC1D24-related conditions. This variant is not present in population databases (ExAC no frequency).

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