ClinVar Miner

Submissions for variant NM_004409.5(DMPK):c.1324G>A (p.Val442Met)

gnomAD frequency: 0.00004  dbSNP: rs780659624
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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 RCV002521487 SCV003738163 uncertain significance Inborn genetic diseases 2021-10-06 criteria provided, single submitter clinical testing The c.1354G>A (p.V452M) alteration is located in exon 9 (coding exon 9) of the DMPK gene. This alteration results from a G to A substitution at nucleotide position 1354, causing the valine (V) at amino acid position 452 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV000415714 SCV000493736 uncertain significance Steinert myotonic dystrophy syndrome 2015-10-23 no assertion criteria provided clinical testing

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