ClinVar Miner

Submissions for variant NM_013444.4(UBQLN2):c.1490C>T (p.Pro497Leu)

dbSNP: rs387906709
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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 RCV000144928 SCV003445740 uncertain significance Amyotrophic lateral sclerosis type 15 2022-06-12 criteria provided, single submitter clinical testing This variant disrupts the p.Pro497 amino acid residue in UBQLN2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 21857683, 24215460, 25398946, 30348461). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 157594). This missense change has been observed in individual(s) with amyotrophic lateral sclerosis (PMID: 24771548). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 497 of the UBQLN2 protein (p.Pro497Leu).
OMIM RCV000144928 SCV000191924 pathogenic Amyotrophic lateral sclerosis type 15 2014-05-01 no assertion criteria provided literature only

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