ClinVar Miner

Submissions for variant NM_013444.4(UBQLN2):c.1516C>A (p.Pro506Thr)

dbSNP: rs387906711
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000022844 SCV005840445 pathogenic Amyotrophic lateral sclerosis type 15 2024-03-02 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 506 of the UBQLN2 protein (p.Pro506Thr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with amyotrophic lateral sclerosis (PMID: 21857683). ClinVar contains an entry for this variant (Variation ID: 29952). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this missense change affects UBQLN2 function (PMID: 21857683, 25616961, 26075709, 26152284, 27477512, 27834214, 30333186). This variant disrupts the p.Pro506 amino acid residue in UBQLN2. Other variant(s) that disrupt this residue have been observed in individuals with UBQLN2-related conditions (PMID: 23138764, 28716533), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000022844 SCV000044133 pathogenic Amyotrophic lateral sclerosis type 15 2011-08-21 no assertion criteria provided literature only

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