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; Palmoplantar keratoderma-deafness syndrome; 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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