Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000815300 | SCV000955749 | uncertain significance | Pancreatic adenocarcinoma | 2022-03-07 | criteria provided, single submitter | clinical testing | Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 658471). This variant has not been reported in the literature in individuals affected with PALLD-related conditions. This variant is present in population databases (rs778210310, gnomAD 0.002%). This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 573 of the PALLD protein (p.His573Tyr). |
| Ambry Genetics | RCV004028847 | SCV002609744 | uncertain significance | not specified | 2022-10-31 | criteria provided, single submitter | clinical testing | The p.H1060Y variant (also known as c.3178C>T), located in coding exon 18 of the PALLD gene, results from a C to T substitution at nucleotide position 3178. The histidine at codon 1060 is replaced by tyrosine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |