ClinVar Miner

Submissions for variant NM_001042537.1(SLC9A6):c.171C>G (p.Ile57Met) (rs782296172)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000433575 SCV000515706 uncertain significance not provided 2017-01-27 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the SLC9A6 gene. The I57M variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The I57M variant is observed in 3/47,771 alleles from individuals of European background, including multiple unrelated hemizygous individuals (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The I57M variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Isoleucine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is 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.
Invitae RCV001088949 SCV000647054 likely benign Christianson syndrome 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000433575 SCV001150450 uncertain significance not provided 2016-09-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001196719 SCV001367350 likely benign Cryptorchidism; Expressive language delay; Seizures; Abnormality of the dentition; Overfolded helix; Frontal upsweep of hair; Microdontia of primary teeth; Infantile spasms 2019-08-29 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence favors the pathogenic nature of this variant, however the currently available data is insufficient to conclusively support its pathogenic nature. Thus this variant is classified as Uncertain significance - favor pathogenic. The following ACMG criteria were applied in classifying this variant: PM2,PP4. This variant was detected in heterozygous state.

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