Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002996542 | SCV003305427 | uncertain significance | Matthew-Wood syndrome | 2022-03-13 | 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with STRA6-related conditions. This variant is present in population databases (rs370760511, gnomAD 0.03%). This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 54 of the STRA6 protein (p.Ala54Ser). |
Ambry Genetics | RCV003367939 | SCV004061713 | uncertain significance | Inborn genetic diseases | 2023-06-30 | criteria provided, single submitter | clinical testing | The c.160G>T (p.A54S) alteration is located in exon 3 (coding exon 2) of the STRA6 gene. This alteration results from a G to T substitution at nucleotide position 160, causing the alanine (A) at amino acid position 54 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |