ClinVar Miner

Submissions for variant NM_002241.5(KCNJ10):c.1051G>A (p.Asp351Asn) (rs373899425)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000522945 SCV000620755 uncertain significance not provided 2017-09-08 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the KCNJ10 gene. The D351N variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The D351N variant is observed in 14/16344 (0.01%) alleles from individuals of South Asian background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The D351N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Fulgent Genetics,Fulgent Genetics RCV000764988 SCV000896167 uncertain significance Enlarged vestibular aqueduct; Pendred syndrome; EAST syndrome 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000522945 SCV001002915 likely benign not provided 2018-05-19 criteria provided, single submitter clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252024 SCV001427771 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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