ClinVar Miner

Submissions for variant GRCh38/hg38 6q21(chr6:106539306-106649299)x1

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV003327619 SCV004034270 likely pathogenic Optic atrophy 10 with or without ataxia, intellectual disability, and seizures 2023-08-24 criteria provided, single submitter research A confirmed maternally inherited heterozygous deletion of 5 genes (https://genescout.omim.org/), including RTN4IP1, was identified by exome sequencing in one individual with optic atrophy in the compound heterozygous state, along with a variant of uncertain significance (p.Val88Gly) (Variation ID: 916015), ([GRCh 38] chr6:106539306_106649299x1) (PMID: 33037779). These breakpoints have been estimated by exome sequencing only and therefore may not reflect the true breakpoints. The patient phenotype is nonspecific, but is consistent with cases described in the literature and/or published databases with overlapping variants. There are no known haploinsufficient genes contained within the deleted region, however loss of function of RTN4IP1 is an established disease mechanism in autosomal recessive optic atrophy with or without ataxia, intellectual disability, and seizures (https://search.thegencc.org/). In summary, although additional studies are required to fully establish its clinical significance, this variant is likely pathogenic for autosomal recessive optic atrophy. The ACMG/ClinGen evidence codes and points used in this curation are as follows: 1: 0 points, 2: 0.90 points, 3: 0 points, 4-5: 0.08 points; Total: 0.98 points; Riggs 2020 (PMID: 31690835).

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