ClinVar Miner

Submissions for variant NM_000539.3(RHO):c.337G>A (p.Glu113Lys)

dbSNP: rs2108749341
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002007136 SCV002233661 pathogenic not provided 2021-06-06 criteria provided, single submitter clinical testing 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 RHO protein function. For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with autosomal dominant retinitis pigmentosa and congenital stationary night blindness (PMID: 27812022, Invitae). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with lysine at codon 113 of the RHO protein (p.Glu113Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004816817 SCV005072273 pathogenic Retinal dystrophy 2018-01-01 criteria provided, single submitter clinical testing

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