Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000478804 | SCV000569935 | likely pathogenic | not provided | 2016-04-05 | criteria provided, single submitter | clinical testing | The c.105_123dup19 variant in the SQSTM1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.105_123dup19 variant causes a frameshift starting with codon Glycine 42, changes this amino acid to an Arginine residue, and creates a premature Stop codon at position 35 of the new reading frame, denoted p.Gly42ArgfsX35. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.105_123dup19 variant was not observed in approximately 5,200 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.105_123dup19 variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded. |
Genome |
RCV000509108 | SCV000606999 | not provided | SQSTM1-related disorder | no assertion provided | phenotyping only | GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. |