Submissions for variant NM_206933.4(USH2A):c.2750G>A (p.Ser917Asn)

dbSNP: rs776323626

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV001197526	SCV001368305	uncertain significance	Usher syndrome type 2A	2020-02-01	criteria provided, single submitter	clinical testing	This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,PP3.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002560235	SCV003480920	uncertain significance	not provided	2022-10-24	criteria provided, single submitter	clinical testing	This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 917 of the USH2A protein (p.Ser917Asn). This variant is present in population databases (rs776323626, gnomAD 0.0009%). This missense change has been observed in individual(s) with retinitis pigmentosa (PMID: 33090715). ClinVar contains an entry for this variant (Variation ID: 931181). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt USH2A protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Genome-Nilou Lab	RCV003449633	SCV004182409	uncertain significance	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001197526	SCV004182410	uncertain significance	Usher syndrome type 2A	2023-11-04	criteria provided, single submitter	clinical testing