Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001266525 | SCV001444700 | likely pathogenic | Inborn genetic diseases | 2020-04-16 | criteria provided, single submitter | clinical testing | The alteration results in a premature stop codon: The c.2020dupA (p.S674Kfs*3) alteration, located in exon 7 (coding exon 6) of the LINS gene, results from a duplication of A at position 2020, causing a translational frameshift with a predicted alternate stop codon after 3 amino acids. Frameshifts are typically deleterious in nature; however, this frameshift occurs at the 3' terminus of LINS, is not expected to trigger nonsense-mediated mRNA decay, and a truncated mutant protein could still be expressed (Maquat, 2004). This alteration impacts the last 84 amino acids of the protein and the exact functional impact of these altered amino acids is unknown at this time. The alteration is rare in population databases: Based on data from the Genome Aggregation Database (gnomAD), the LINS c.2020dupA alteration was observed in 0.003% (1/31382) of total alleles studied. Based on the available evidence, this alteration is classified as likely pathogenic. |