ClinVar Miner

Submissions for variant NM_001365068.1(ASTN2):c.2806+27625G>A (rs141953092)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000321431 SCV000342461 uncertain significance not provided 2017-09-19 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000660512 SCV000782612 uncertain significance Sarcotubular myopathy; Bardet-Biedl syndrome 11 2017-03-10 criteria provided, single submitter clinical testing
Invitae RCV001038705 SCV001202189 uncertain significance Bardet-Biedl syndrome 2020-10-23 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 135 of the TRIM32 protein (p.Thr135Ile). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs141953092, ExAC 0.1%). This variant has not been reported in the literature in individuals with TRIM32-related conditions. ClinVar contains an entry for this variant (Variation ID: 288372). 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. 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.

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