ClinVar Miner

Submissions for variant NM_004409.5(DMPK):c.1775T>A (p.Leu592His)

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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 RCV002693374 SCV003726879 uncertain significance Inborn genetic diseases 2022-05-18 criteria provided, single submitter clinical testing The c.1805T>A (p.L602H) alteration is located in exon 14 (coding exon 14) of the DMPK gene. This alteration results from a T to A substitution at nucleotide position 1805, causing the leucine (L) at amino acid position 602 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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