Submissions for variant NM_145261.4(DNAJC19):c.69G>A (p.Leu23=) (rs142023670)

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Total submissions: 5

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000124749	SCV000168188	benign	not specified	2014-02-21	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	RCV000295031	SCV000442279	uncertain significance	3-methylglutaconic aciduria type V	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000677066	SCV000641957	benign	not provided	2019-02-08	criteria provided, single submitter	clinical testing
Integrated Genetics/Laboratory Corporation of America	RCV000124749	SCV000917298	benign	not specified	2017-09-11	criteria provided, single submitter	clinical testing	Variant summary: The c.69G>A (p.Leu23=) in DNAJC19 gene is a synonymous change that involves a mildly conserved nucleotide. 5/5 programs in Alamut predict that this variant does not affect splicing, however no functional studies supporting this notion were published at the time of evaluation. The variant is present in control dataset of ExAC at a frequency of 0.0044 (540/ 121392 chrs tested, including 4 homozygotes). These frequencies exceed the estimated maximum allele frequency for a pathogenic allele in this gene (0.000025). The variant of interest has not, to our knowledge, been reported in affected individuals via published reports, but is sited as Benign by a reputable database/clinical laboratory. Taking together, the variant was classified as Benign.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic	RCV000677066	SCV000802902	likely benign	not provided	2016-02-25	no assertion criteria provided	clinical testing

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