ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.358G>A (p.Glu120Lys) (rs528216023)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518624 SCV000613515 uncertain significance not specified 2017-05-10 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587927 SCV000698249 uncertain significance not provided 2016-05-23 criteria provided, single submitter clinical testing Variant summary: The GJB2 c.358G>A (p.Glu120Lys) variant involves the alteration of a non-conserved nucleotide. 3/4 in silico tools predict a benign outcome (SNPs&GO not captured due to low reliability index); however, functional studies had not been published at the time of classification to confirm these in silico predictions. This variant was found in 4/121052 control chromosomes at a frequency of 0.000033, which does not exceed the estimated maximal expected allele frequency of a pathogenic GJB2 variant (0.025). The variant was observed in 2 patients from the literature without significant evidence of causality (i.e. co-segregation data). The variant had not been classified by other clinical labs, but was reported as a pathogenic variant by one database without evidence to independently evaluate. Because of the absence of clinical information and the lack of functional studies, the variant was classified as a variant of uncertain significance (VUS) until additional information becomes available.
Counsyl RCV000666427 SCV000790718 uncertain significance Deafness, autosomal recessive 1A 2017-04-05 criteria provided, single submitter clinical testing

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