ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.913G>T (p.Ala305Ser) (rs150367317)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000550439 SCV000634711 benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000734269 SCV000862394 likely benign not specified 2018-08-02 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000734269 SCV001157548 uncertain significance not specified 2019-06-06 criteria provided, single submitter clinical testing The EVC2 c.[904T>A; c.913G>T]; p.[Phe302Ile; p.Ala305Ser] complex variant (rs138728350, rs150367317), to our knowledge, is not reported in the medical literature or gene specific databases. The individual variants are reported separately as benign or likely benign in ClinVar (Variation ID: 461811, 461812), but are found in cis in the Genome Aggregation Database with an overall allele frequency of 0.05% (145/282808 alleles, including 2 homozygotes) in the general population. The phenylalanine at codon 302 and the alanine at codon 305 are both highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that each variant is deleterious. Due to limited information, the clinical significance of the complex variant is uncertain at this time.
Illumina Clinical Services Laboratory,Illumina RCV001151786 SCV001312956 likely benign Ellis-van Creveld syndrome 2017-09-12 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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