Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Broad Center for Mendelian Genomics, |
RCV002789965 | SCV003761206 | uncertain significance | Retinitis pigmentosa 76 | 2023-01-24 | criteria provided, single submitter | curation | The heterozygous p.Phe501Ser variant in POMGNT1 was identified by our study in one individual with retinal dystrophy. This individual also carried another variant of uncertain significance in POMGNT1; however, the phase of these variants is unknown at this time. The p.Phe501Ser variant in POMGNT1 has not been previously reported in the literature in individuals with POMGNT1-associated retinal dystrophy but has been identified in 0.0147% (1/68016) of European (non-Finnish) chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP ID: rs727502852). Although this variant has been seen in the general population in a heterozygous state, its frequency is low enough to be consistent with a recessive carrier frequency. Computational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Phe501Ser variant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting, PP3 (Richards 2015). |
| Ambry Genetics | RCV003294606 | SCV003995115 | uncertain significance | Inborn genetic diseases | 2023-06-02 | criteria provided, single submitter | clinical testing | The c.1502T>C (p.F501S) alteration is located in exon 17 (coding exon 16) of the POMGNT1 gene. This alteration results from a T to C substitution at nucleotide position 1502, causing the phenylalanine (F) at amino acid position 501 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |