Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV003386087 | SCV004088233 | uncertain significance | Inborn genetic diseases | 2023-08-14 | criteria provided, single submitter | clinical testing | The c.442G>A (p.D148N) alteration is located in exon 5 (coding exon 5) of the APOB gene. This alteration results from a G to A substitution at nucleotide position 442, causing the aspartic acid (D) at amino acid position 148 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |