ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.550G>A (p.Asp184Asn) (rs41269549)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725205 SCV000334959 uncertain significance not provided 2016-11-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000334802 SCV000450149 likely benign Ellis-van Creveld syndrome 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000391771 SCV000450150 likely benign Curry-Hall syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000725205 SCV000617141 uncertain significance not provided 2018-03-30 criteria provided, single submitter clinical testing The D184N variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The D184N variant is observed in 227/66612 (0.34%) alleles from individuals of European background in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). D184N is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV001083825 SCV001097951 likely benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001950 SCV001159736 uncertain significance not specified 2019-02-23 criteria provided, single submitter clinical testing The EVC c.550G>A; p.Asp184Asn variant (rs41269549), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 283079). This variant is listed in the Genome Aggregation Database (gnomAD) with an overall population frequency of 0.2 percent (identified on 598 out of 282,654 chromosomes). The aspartic acid at position 184 is moderately conserved and computational analyses of the effects of the p.Asp184Asn variant on protein structure and function is conflicting (SIFT: tolerated, PolyPhen-2: possibly damaging). Overall, there is insufficient information to determine its clinical significance with certainty.

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