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

gnomAD frequency: 0.00029  dbSNP: rs142596580

Total submissions: 10

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