ClinVar Miner

Submissions for variant NM_001267727.2(ARSG):c.253T>C (p.Ser85Pro)

gnomAD frequency: 0.00001  dbSNP: rs141748845
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001234820 SCV001407480 uncertain significance not provided 2023-07-10 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 85 of the ARSG protein (p.Ser85Pro). This variant is present in population databases (rs141748845, gnomAD 0.002%). This missense change has been observed in individual(s) with Usher syndrome (PMID: 33300174). ClinVar contains an entry for this variant (Variation ID: 961169). 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 expected to disrupt ARSG protein function. 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.
Division of Genetic Medicine, Lausanne University Hospital RCV001281351 SCV001451722 pathogenic Usher syndrome, type 4 2020-12-23 no assertion criteria provided clinical testing
OMIM RCV001281351 SCV001572339 pathogenic Usher syndrome, type 4 2023-01-21 no assertion criteria provided literature only

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