ClinVar Miner

Submissions for variant NM_183235.3(RAB27A):c.365A>T (p.Tyr122Phe)

dbSNP: rs1259290779
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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 RCV000644916 SCV000766637 uncertain significance Griscelli syndrome type 2 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with phenylalanine at codon 122 of the RAB27A protein (p.Tyr122Phe). The tyrosine residue is highly conserved and there is a small physicochemical difference between tyrosine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with RAB27A-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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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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