ClinVar Miner

Submissions for variant NM_002241.5(KCNJ10):c.1061A>G (p.Lys354Arg)

gnomAD frequency: 0.00029  dbSNP: rs142596580
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000656852 SCV000241410 uncertain significance not provided 2024-08-25 criteria provided, single submitter clinical testing Observed with a second variant on the opposite allele (in trans) in a patient with Rett syndrome; however, evidence in support of pathogenicity for these variants was not provided in the report (PMID: 27171548); In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 27171548)
Eurofins Ntd Llc (ga) RCV000656852 SCV000336762 uncertain significance not provided 2015-11-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000463470 SCV000552195 likely benign EAST syndrome 2025-01-22 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000656852 SCV000842577 uncertain significance not provided 2018-06-04 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV004577730 SCV001255840 uncertain significance Hearing loss, autosomal recessive 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV000463470 SCV001255841 uncertain significance EAST syndrome 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Baylor Genetics RCV001334026 SCV001526761 uncertain significance Autosomal recessive nonsyndromic hearing loss 4 2018-01-16 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002408834 SCV002717266 likely benign Inborn genetic diseases 2024-04-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV005003542 SCV002816681 uncertain significance Autosomal recessive nonsyndromic hearing loss 4; EAST syndrome 2024-04-08 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000656852 SCV005408291 uncertain significance not provided 2024-06-18 criteria provided, single submitter clinical testing BP5, PM2

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