ClinVar Miner

Submissions for variant NM_024589.2(ROGDI):c.532-4G>A (rs3747610)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000340704 SCV000397139 likely benign Amelocerebrohypohidrotic syndrome 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV000340704 SCV000634369 benign Amelocerebrohypohidrotic syndrome 2019-12-31 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000340704 SCV000898934 uncertain significance Amelocerebrohypohidrotic syndrome 2018-06-20 criteria provided, single submitter clinical testing ROGDI NM_024589.2 exon 8 c.532-4G>A: This variant has not been reported in the literature but is present in 0.6% (125/18632) of East Asian alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs3747610). This variant is present in ClinVar (Variation ID:319403). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Although this variant occurs in the splice region, computational prediction tools do not suggest that it may alter splicing. However, further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001532277 SCV001747758 likely benign not provided 2021-06-01 criteria provided, single submitter clinical testing

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