ClinVar Miner

Submissions for variant NM_001374736.1(DST):c.4375A>C (p.Lys1459Gln)

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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 RCV003217622 SCV003907664 uncertain significance Inborn genetic diseases 2023-03-10 criteria provided, single submitter clinical testing The c.4276A>C (p.K1426Q) alteration is located in exon 31 (coding exon 31) of the DST gene. This alteration results from a A to C substitution at nucleotide position 4276, causing the lysine (K) at amino acid position 1426 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV003481471 SCV004227279 uncertain significance not provided 2022-06-30 criteria provided, single submitter clinical testing BP4, PM2

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