ClinVar Miner

Submissions for variant NM_001042681.2(RERE):c.1768A>C (p.Lys590Gln)

gnomAD frequency: 0.00001  dbSNP: rs762635516
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001256118 SCV001432906 uncertain significance Autism; Intellectual disability 2020-02-26 criteria provided, single submitter clinical testing The c.1768A>C, p.Lys590Gln missense variant identified in the RERE gene has not been reported in affected individuals in the literature. The variant has 0.000008 allele frequency in the gnomAD database (2 out of 249,530 heterozygous alleles) indicating it is an extremely rare allele in the general population. The affected Lys590 residue is highly conserved among vertebrates and is predicted deleterious by multiple in silico prediction tools. Based on the current evidence, the p.Lys590Gln variant in the RERE gene is assessed as a variant of uncertain significance.
Invitae RCV003669218 SCV004389328 uncertain significance not provided 2023-09-09 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamine, which is neutral and polar, at codon 590 of the RERE protein (p.Lys590Gln). This variant is present in population databases (rs762635516, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with RERE-related conditions. ClinVar contains an entry for this variant (Variation ID: 978162). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on RERE protein function. 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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