ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5003G>T (p.Gly1668Val)

gnomAD frequency: 0.00001  dbSNP: rs1265349835
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Personalized Medicine, Children's Hospital Los Angeles RCV000735363 SCV000854517 uncertain significance Short stature; Cognitive impairment; High palate; Distal arthrogryposis; Anxiety; Brisk reflexes; Abnormal autonomic nervous system physiology; Abnormality of the upper limb; Multiple joint contractures; Dislocated radial head; Abnormality of upper limb joint; Chronic pain; Abnormal upper limb bone morphology criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001869007 SCV002298896 uncertain significance not provided 2021-09-24 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 1668 of the USH2A protein (p.Gly1668Val). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with USH2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 598989). 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 RCV003453536 SCV004181861 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453535 SCV004181862 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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