ClinVar Miner

Submissions for variant NM_001387690.1(KATNAL2):c.385C>T (p.Arg129Trp)

gnomAD frequency: 0.00062  dbSNP: rs148791504
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004026887 SCV000849671 uncertain significance not specified 2019-06-29 criteria provided, single submitter clinical testing The p.R57W variant (also known as c.169C>T), located in coding exon 3 of the KATNAL2 gene, results from a C to T substitution at nucleotide position 169. The arginine at codon 57 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species, and tryptophan is the reference amino acid in other vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003918172 SCV004731919 likely benign KATNAL2-related disorder 2023-12-27 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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