ClinVar Miner

Submissions for variant NM_000276.4(OCRL):c.1889T>C (p.Val630Ala)

gnomAD frequency: 0.00001  dbSNP: rs768629676
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001996518 SCV002278494 uncertain significance Lowe syndrome 2021-09-24 criteria provided, single submitter clinical testing This sequence change replaces valine with alanine at codon 630 of the OCRL protein (p.Val630Ala). The valine residue is weakly conserved and there is a small physicochemical difference between valine and alanine. This variant is present in population databases (rs768629676, ExAC 0.002%). This variant has not been reported in the literature in individuals with OCRL-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt OCRL protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV002479721 SCV002788266 uncertain significance Dent disease type 2; Lowe syndrome 2022-05-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003426280 SCV004117303 uncertain significance OCRL-related disorder 2023-07-13 criteria provided, single submitter clinical testing The OCRL c.1889T>C variant is predicted to result in the amino acid substitution p.Val630Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0025% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/X-128710303-T-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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