Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000627493 | SCV000748493 | likely pathogenic | not provided | 2018-03-12 | criteria provided, single submitter | clinical testing | The c.3566dupA variant in the LRPPRC gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant causes a frameshift starting with codon Asparagine 1190, changes this amino acid to a Glutamic acid residue, and creates a premature Stop codon at position 2 of the new reading frame, denoted p.Asn1190GlufsX2. The c.3566dupA variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret c.3566dupA as a likely pathogenic variant. |
Baylor Genetics | RCV003465367 | SCV004191123 | likely pathogenic | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | 2022-03-30 | criteria provided, single submitter | clinical testing |