ClinVar Miner

Submissions for variant NM_183235.3(RAB27A):c.295T>C (p.Phe99Leu)

dbSNP: rs1371541124
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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 RCV001892921 SCV002163595 uncertain significance Griscelli syndrome type 2 2021-06-18 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 99 of the RAB27A protein (p.Phe99Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of Griscelli syndrome type 2 (Invitae). 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. 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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