ClinVar Miner

Submissions for variant NM_001318734.2(KLC2):c.1526G>A (p.Arg509Gln)

gnomAD frequency: 0.00002  dbSNP: rs749350069
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329922 SCV001521484 uncertain significance Spastic paraplegia, optic atropy, and neuropathy 2020-02-28 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV004035682 SCV003547644 uncertain significance not specified 2021-08-06 criteria provided, single submitter clinical testing The c.1526G>A (p.R509Q) alteration is located in exon 13 (coding exon 12) of the KLC2 gene. This alteration results from a G to A substitution at nucleotide position 1526, causing the arginine (R) at amino acid position 509 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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