ClinVar Miner

Submissions for variant NM_014353.5(RAB26):c.17C>T (p.Thr6Ile)

gnomAD frequency: 0.00004  dbSNP: rs1349162361
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004443055 SCV004934248 uncertain significance not specified 2023-12-22 criteria provided, single submitter clinical testing The c.17C>T (p.T6I) alteration is located in exon 1 (coding exon 1) of the RAB26 gene. This alteration results from a C to T substitution at nucleotide position 17, causing the threonine (T) at amino acid position 6 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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