Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001237002 | SCV001409747 | uncertain significance | Chédiak-Higashi syndrome | 2020-04-03 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with LYST-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with leucine at codon 1603 of the LYST protein (p.Pro1603Leu). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and leucine. |
Ambry Genetics | RCV002563878 | SCV003612497 | uncertain significance | Inborn genetic diseases | 2022-02-03 | criteria provided, single submitter | clinical testing | The c.4808C>T (p.P1603L) alteration is located in exon 14 (coding exon 12) of the LYST gene. This alteration results from a C to T substitution at nucleotide position 4808, causing the proline (P) at amino acid position 1603 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |