Submissions for variant NM_206933.4(USH2A):c.11506C>T (p.Pro3836Ser)

gnomAD frequency: 0.00010  dbSNP: rs371987720

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000730420	SCV000858154	uncertain significance	not provided	2017-11-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001267049	SCV001445230	uncertain significance	Inborn genetic diseases	2016-09-27	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000730420	SCV003025362	uncertain significance	not provided	2022-10-17	criteria provided, single submitter	clinical testing	This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 3836 of the USH2A protein (p.Pro3836Ser). This variant is present in population databases (rs371987720, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with USH2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 594997). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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	RCV003453522	SCV004182098	uncertain significance	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001825461	SCV004182099	uncertain significance	Usher syndrome type 2A	2023-11-04	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001825461	SCV002088329	uncertain significance	Usher syndrome type 2A	2019-11-11	no assertion criteria provided	clinical testing