ClinVar Miner

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

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001256118 SCV001432906 uncertain significance Autistic disorder of childhood onset; 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.

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