Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000607107 | SCV000713841 | uncertain significance | not specified | 2018-01-25 | criteria provided, single submitter | clinical testing | Variant classified as Uncertain Significance - Favor Benign. The p.Ser3338Leu va riant in USH2A has not been previously reported in individuals with hearing loss or Usher syndrome and was absent from large population studies. Serine (Ser) at position 3338 is not conserved in mammals or evolutionarily distant species and 2 mammals (white rhinoceros and hedgehog) carry a leucine (Leu) at this positio n, raising the possibility that this change may be tolerated. Additional computa tional prediction tools support that the variant may not impact the protein, tho ugh this information is not predictive enough to rule out pathogenicity. In summ ary, while the clinical significance of the p.Ser3338Leu variant is uncertain, t hese data suggest that it is more likely to be benign. ACMG/AMP Criteria applied : PM2; BP4. |
Ambry Genetics | RCV003258887 | SCV003946855 | uncertain significance | Inborn genetic diseases | 2023-03-24 | criteria provided, single submitter | clinical testing | The c.10013C>T (p.S3338L) alteration is located in exon 51 (coding exon 50) of the USH2A gene. This alteration results from a C to T substitution at nucleotide position 10013, causing the serine (S) at amino acid position 3338 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Genome- |
RCV003451379 | SCV004182609 | uncertain significance | Retinitis pigmentosa 39 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001829717 | SCV004182610 | uncertain significance | Usher syndrome type 2A | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001829717 | SCV002088373 | uncertain significance | Usher syndrome type 2A | 2021-09-17 | no assertion criteria provided | clinical testing |