ClinVar Miner

Submissions for variant NM_002547.3(OPHN1):c.148A>G (p.Met50Val)

gnomAD frequency: 0.00001  dbSNP: rs367993068
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001092799 SCV001249456 uncertain significance not provided 2022-10-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001092799 SCV002300200 uncertain significance not provided 2022-04-26 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 872373). This variant has not been reported in the literature in individuals affected with OPHN1-related conditions. This variant is present in population databases (rs367993068, gnomAD 0.001%), including at least one homozygous and/or hemizygous individual. This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 50 of the OPHN1 protein (p.Met50Val).
Revvity Omics, Revvity RCV003132223 SCV003814281 uncertain significance X-linked intellectual disability-cerebellar hypoplasia syndrome 2020-12-20 criteria provided, single submitter clinical testing

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