ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.923T>C (p.Leu308Pro) (rs78135392)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755553 SCV000604025 uncertain significance not provided 2017-05-10 criteria provided, single submitter clinical testing The p.Leu308Pro variant (rs78135392) has not been reported in the medical literature or gene specific variation databases but has been reported to ClinVar (variation ID: 364578). This variant is listed in the NHLBI GO Exome Sequencing Project with an overall population frequency of 0.28 percent (identified on 36 out of 13,006 chromosomes) and is listed in the genome Aggregation database with an overall population frequency of 0.75 percent (identified on 181 out of 24,030 chromosomes including 1 homozygote). The leucine at position 308 is moderately conserved (considering 13 species, Alamut v.2.9.0) and computational analyses of the effects of the p.Leu308Pro variant on protein structure and function provide conflicting results (SIFT: tolerated, MutationTaster: disease causing, PolyPhen-2: probably damaging). Altogether, there is not enough evidence to classify the p.Leu308Pro variant with certainty.
GeneDx RCV000506849 SCV000715000 likely benign not specified 2017-10-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000262689 SCV000476585 uncertain significance Familial dysautonomia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000262689 SCV000751667 likely benign Familial dysautonomia 2017-12-21 criteria provided, single submitter clinical testing

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