ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.663G>C (p.Lys221Asn) (rs375599392)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037869 SCV000061531 uncertain significance not specified 2012-04-17 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Lys221Asn varia nt in GJB2 has not been reported in the literature in any individuals with heari ng loss nor previously identified by our laboratory. However, this variant has b een identified in 0.01% (1/6984) of European American chromosomes in a broad pop ulation by the NHLBI Exome sequencing project (http://evs.gs.washington.edu/EVS/ ). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational analyses (bioche mical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do no t provide strong support for or against an impact to the protein. In summary, th e clinical significance of this variant cannot be determined with certainty.
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000505528 SCV000599766 uncertain significance Deafness, autosomal recessive 1A 2017-05-09 criteria provided, single submitter clinical testing
Counsyl RCV000505528 SCV000795432 uncertain significance Deafness, autosomal recessive 1A 2017-11-14 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765114 SCV000896336 uncertain significance Deafness, autosomal recessive 1A; Mutilating keratoderma; Hystrix-like ichthyosis with deafness; Keratitis-ichthyosis-deafness syndrome, autosomal dominant; Keratoderma palmoplantar deafness; Knuckle pads, deafness AND leukonychia syndrome; Deafness, autosomal dominant 3a; Deafness, X-linked 2 2018-10-31 criteria provided, single submitter clinical testing

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