ClinVar Miner

Submissions for variant NM_183235.3(RAB27A):c.259G>T (p.Ala87Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003616939 SCV004465848 likely pathogenic Griscelli syndrome type 2 2023-05-17 criteria provided, single submitter clinical testing This variant disrupts the p.Ala87 amino acid residue in RAB27A. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 16278825, 25544030, 26880764). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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 expected to disrupt RAB27A protein function. This variant has not been reported in the literature in individuals affected with RAB27A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 87 of the RAB27A protein (p.Ala87Ser).

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