ClinVar Miner

Submissions for variant NM_025009.5(CEP135):c.575A>T (p.Asp192Val)

gnomAD frequency: 0.00001  dbSNP: rs1324886097
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334253 SCV001527047 uncertain significance Microcephaly 8, primary, autosomal recessive 2018-04-27 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001871859 SCV002135218 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with valine at codon 192 of the CEP135 protein (p.Asp192Val). The aspartic acid residue is moderately conserved and there is a large physicochemical difference between aspartic acid and valine. This variant is present in population databases (no rsID available, ExAC 0.05%). This variant has not been reported in the literature in individuals affected with CEP135-related conditions. ClinVar contains an entry for this variant (Variation ID: 1032209). 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: "Tolerated"; 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.

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