ClinVar Miner

Submissions for variant NM_013444.4(UBQLN2):c.1601C>T (p.Thr534Met)

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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 RCV002573768 SCV002934442 uncertain significance Amyotrophic lateral sclerosis type 15 2023-03-30 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1898099). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. This variant has not been reported in the literature in individuals affected with UBQLN2-related conditions. This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 534 of the UBQLN2 protein (p.Thr534Met). 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.

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