Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002513633 | SCV003575646 | uncertain significance | Inborn genetic diseases | 2021-11-08 | criteria provided, single submitter | clinical testing | The c.563T>C (p.L188S) alteration is located in exon 4 (coding exon 3) of the PGAP2 gene. This alteration results from a T to C substitution at nucleotide position 563, causing the leucine (L) at amino acid position 188 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
OMIM | RCV000043537 | SCV000071250 | pathogenic | Hyperphosphatasia with intellectual disability syndrome 3 | 2013-04-04 | no assertion criteria provided | literature only |