Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001359425 | SCV001555295 | uncertain significance | Griscelli syndrome type 2 | 2023-12-11 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 13 of the RAB27A protein (p.Leu13Val). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This missense change has been observed in individual(s) with clinical features of Griscelli syndrome (Invitae). ClinVar contains an entry for this variant (Variation ID: 1051397). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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. |
Ambry Genetics | RCV004034529 | SCV004934259 | uncertain significance | Inborn genetic diseases | 2023-12-19 | criteria provided, single submitter | clinical testing | The c.37T>G (p.L13V) alteration is located in exon 2 (coding exon 1) of the RAB27A gene. This alteration results from a T to G substitution at nucleotide position 37, causing the leucine (L) at amino acid position 13 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |