ClinVar Miner

Submissions for variant NM_002979.5(SCP2):c.686A>G (p.Asp229Gly)

gnomAD frequency: 0.00001  dbSNP: rs762454467
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences RCV001353214 SCV001442505 uncertain significance Sensorineural hearing loss disorder 2020-09-30 criteria provided, single submitter clinical testing
Invitae RCV002542840 SCV003310443 uncertain significance not provided 2023-08-04 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 229 of the SCP2 protein (p.Asp229Gly). This variant is present in population databases (rs762454467, gnomAD 0.01%). This missense change has been observed in individual(s) with nonsyndromic deafness (PMID: 33713422). This variant is also known as p.Asp185Gly. ClinVar contains an entry for this variant (Variation ID: 984405). 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. 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.

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