ClinVar Miner

Submissions for variant NM_002547.3(OPHN1):c.1139T>C (p.Met380Thr)

gnomAD frequency: 0.00001  dbSNP: rs770608210
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000821641 SCV000962410 uncertain significance not provided 2018-11-21 criteria provided, single submitter clinical testing This sequence change replaces methionine with threonine at codon 380 of the OPHN1 protein (p.Met380Thr). The methionine residue is moderately conserved and there is a moderate physicochemical difference between methionine and threonine. This variant is present in population databases (rs770608210, ExAC 0.01%). This variant has not been reported in the literature in individuals with OPHN1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001731944 SCV001984243 uncertain significance X-linked intellectual disability-cerebellar hypoplasia syndrome 2020-07-21 criteria provided, single submitter clinical testing

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