ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.1072C>A (p.Pro358Thr)

gnomAD frequency: 0.00003  dbSNP: rs368150932
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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 RCV000699167 SCV000827865 uncertain significance Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 2022-08-21 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 358 of the TBC1D24 protein (p.Pro358Thr). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt TBC1D24 protein function. ClinVar contains an entry for this variant (Variation ID: 576626). This variant has not been reported in the literature in individuals affected with TBC1D24-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database.
Eurofins Ntd Llc (ga) RCV000730515 SCV000858257 uncertain significance not provided 2017-11-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002533550 SCV003546800 uncertain significance Inborn genetic diseases 2021-02-19 criteria provided, single submitter clinical testing The c.1072C>A (p.P358T) alteration is located in exon 4 (coding exon 3) of the TBC1D24 gene. This alteration results from a C to A substitution at nucleotide position 1072, causing the proline (P) at amino acid position 358 to be replaced by a threonine (T). The in silico prediction for the p.P358T alteration is inconclusive. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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