ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.14C>T (p.Thr5Met)

gnomAD frequency: 0.00001  dbSNP: rs781085903
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000711345 SCV000841696 uncertain significance not provided 2017-12-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000711345 SCV002168360 uncertain significance not provided 2021-10-27 criteria provided, single submitter clinical testing This sequence change replaces threonine, a(n) neutral and polar amino acid, with methionine, a(n) neutral and non-polar amino acid, at codon 5 of the GJB2 protein (p.Thr5Met). This variant is present in population databases (rs781085903, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with GJB2-related conditions. ClinVar contains an entry for this variant (Variation ID: 585738). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002493261 SCV002781572 uncertain significance Autosomal recessive nonsyndromic hearing loss 1A; Mutilating keratoderma; Ichthyosis, hystrix-like, with hearing loss; Autosomal dominant keratitis-ichthyosis-hearing loss syndrome; Palmoplantar keratoderma-deafness syndrome; Knuckle pads, deafness AND leukonychia syndrome; Autosomal dominant nonsyndromic hearing loss 3A; X-linked mixed hearing loss with perilymphatic gusher 2021-10-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830575 SCV002086074 uncertain significance Autosomal recessive nonsyndromic hearing loss 1A 2021-03-12 no assertion criteria provided clinical testing

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