ClinVar Miner

Submissions for variant NM_004447.6(EPS8):c.2104C>T (p.Arg702Trp)

gnomAD frequency: 0.00001  dbSNP: rs201426875
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001939868 SCV002186744 uncertain significance not provided 2021-09-17 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 702 of the EPS8 protein (p.Arg702Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs201426875, ExAC 0.1%). This variant has not been reported in the literature in individuals affected with EPS8-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Revvity Omics, Revvity RCV003146343 SCV003833549 uncertain significance Autosomal recessive nonsyndromic hearing loss 102 2019-10-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV004975848 SCV005572805 uncertain significance Inborn genetic diseases 2024-08-27 criteria provided, single submitter clinical testing The c.2104C>T (p.R702W) alteration is located in exon 19 (coding exon 18) of the EPS8 gene. This alteration results from a C to T substitution at nucleotide position 2104, causing the arginine (R) at amino acid position 702 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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