ClinVar Miner

Submissions for variant NM_002547.3(OPHN1):c.1613A>G (p.Asp538Gly)

gnomAD frequency: 0.00006  dbSNP: rs141368794
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193924 SCV000248393 uncertain significance not specified 2015-02-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000766101 SCV000897580 uncertain significance X-linked intellectual disability-cerebellar hypoplasia syndrome 2021-08-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002399715 SCV002705260 uncertain significance Inborn genetic diseases 2022-07-08 criteria provided, single submitter clinical testing The c.1613A>G (p.D538G) alteration is located in exon 19 (coding exon 18) of the OPHN1 gene. This alteration results from a A to G substitution at nucleotide position 1613, causing the aspartic acid (D) at amino acid position 538 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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