ClinVar Miner

Submissions for variant NM_001366722.1(GRIP1):c.1785A>C (p.Lys595Asn)

dbSNP: rs1565721288
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002266519 SCV002547539 uncertain significance not specified 2022-05-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488666 SCV002782104 uncertain significance Fraser syndrome 3 2021-11-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003101510 SCV003206540 uncertain significance not provided 2024-10-23 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 543 of the GRIP1 protein (p.Lys543Asn). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with GRIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1696374). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on GRIP1 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.

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