ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.2778A>G (p.Lys926=)

gnomAD frequency: 0.00001  dbSNP: rs751179612
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000757405 SCV000751668 likely benign not provided 2023-12-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757405 SCV000885612 likely benign not provided 2017-06-26 criteria provided, single submitter clinical testing The c.2778A>G variant has not been previously associated with any peripheral neuropathy. This variant is rare in the general population, and is listed in the Genome Aggregation Database (gnomAD) browser with a frequency in non-Finnish Europeans of 0.004% (identified in 4 out of 111,180 chromosomes). However, this variant affects a weakly conserved nucleotide (Alamut software v 2.9), does not alter the amino acid sequence of IKBKAP protein, and is not predicted to alter IKBKAP mRNA splicing (Alamut software v 2.9). Therefore, the c.2778A>G variant is likely to be benign.
Ambry Genetics RCV004025388 SCV002755117 likely benign not specified 2019-07-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Fulgent Genetics, Fulgent Genetics RCV002492944 SCV002802366 likely benign Medulloblastoma; Familial dysautonomia 2021-12-20 criteria provided, single submitter clinical testing

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