ClinVar Miner

Submissions for variant NM_006383.4(CIB2):c.223G>A (p.Val75Met)

gnomAD frequency: 0.00004  dbSNP: rs758743502
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000755752 SCV000883296 uncertain significance Autosomal recessive nonsyndromic hearing loss 48 2018-10-15 criteria provided, single submitter curation This variant is interpreted as Uncertain Significance - Conflicting Evidence, for Deafness, autosomal recessive. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. BP5 => Variant found in a case with an alternate molecular basis for disease (https://www.ncbi.nlm.nih.gov/pubmed/26416264).
Invitae RCV001855863 SCV002186946 uncertain significance not provided 2022-10-05 criteria provided, single submitter clinical testing 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. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 617936). This missense change has been observed in individual(s) with clinical features of non-syndromic deafness (PMID: 29112224; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs758743502, gnomAD 0.005%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 75 of the CIB2 protein (p.Val75Met).

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