ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.1704A>G (p.Ser568=)

gnomAD frequency: 0.00011  dbSNP: rs138192941
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726723 SCV000702440 uncertain significance not provided 2016-11-03 criteria provided, single submitter clinical testing
GeneDx RCV000592752 SCV000726920 likely benign not specified 2018-01-31 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.
Invitae RCV000726723 SCV001005563 likely benign not provided 2024-01-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001166745 SCV001329151 uncertain significance Familial dysautonomia 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Ambry Genetics RCV002461906 SCV002756019 likely benign Inborn genetic diseases 2022-09-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc. RCV001166745 SCV002082121 likely benign Familial dysautonomia 2018-09-03 no assertion criteria provided clinical testing

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