ClinVar Miner

Submissions for variant NM_183235.3(RAB27A):c.49G>A (p.Asp17Asn)

gnomAD frequency: 0.00004  dbSNP: rs777995262
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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 RCV001998876 SCV002269721 uncertain significance Griscelli syndrome type 2 2021-10-27 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with RAB27A-related conditions. This sequence change replaces aspartic acid, a(n) acidic and polar amino acid, with asparagine, a(n) neutral and polar amino acid, at codon 17 of the RAB27A protein (p.Asp17Asn). This variant is present in population databases (rs777995262, gnomAD 0.03%), including at least one homozygous and/or hemizygous individual. 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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