ClinVar Miner

Submissions for variant NM_002241.5(KCNJ10):c.1048G>A (p.Gly350Arg)

gnomAD frequency: 0.00002  dbSNP: rs770453248
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000457626 SCV000552197 uncertain significance EAST syndrome 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 350 of the KCNJ10 protein (p.Gly350Arg). This variant is present in population databases (rs770453248, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with KCNJ10-related conditions. ClinVar contains an entry for this variant (Variation ID: 411159). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 RCV002489076 SCV002792156 uncertain significance Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome; EAST syndrome 2022-02-26 criteria provided, single submitter clinical testing

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