Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000591647 | SCV000706351 | pathogenic | not provided | 2017-02-09 | criteria provided, single submitter | clinical testing | |
Blueprint Genetics | RCV001074974 | SCV001240582 | pathogenic | Retinal dystrophy | 2017-11-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000591647 | SCV001589414 | pathogenic | not provided | 2023-12-26 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1982 of the MYO7A protein (p.Gly1982Arg). This variant also falls at the last nucleotide of exon 43, which is part of the consensus splice site for this exon. This variant is present in population databases (rs761469964, gnomAD 0.002%). This missense change has been observed in individuals with autosomal recessive Usher syndrome (PMID: 18181211, 22135276, 25404053). ClinVar contains an entry for this variant (Variation ID: 500416). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects MYO7A function (PMID: 18181211). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this missense change alters mRNA splicing and is expected to lead to the loss of protein expression (PMID: 20052763). For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV000591647 | SCV002575124 | pathogenic | not provided | 2022-09-20 | criteria provided, single submitter | clinical testing | Non-canonical splice site variant demonstrated to result in loss of function (Le Guedard-Mereuze et al., 2010); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 20132242, 23647439, 21436283, 20052763, 18181211, 21031134, 28660889, 31479088, 33576163, 25404053) |
Natera, |
RCV001829663 | SCV002088530 | pathogenic | Usher syndrome type 1B | 2020-07-21 | no assertion criteria provided | clinical testing |