ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.1738G>A (p.Glu580Lys)

dbSNP: rs863223361
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV002284371 SCV002573592 likely pathogenic Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures 2021-10-22 criteria provided, single submitter clinical testing A heterozygous missense variation in exon 8 of the DYNC1H1 gene that results in the amino acid substitution of Glutamic acid for Lysine at codon580 was detected. The observed variant c.1738G>A;(p.Glu580Lys) is not been reported in the 1000 genomes and gnomAD databases. The in-silico prediction of the variant is benign by PolyPhen-2 (HumDiv) and damaging by SIFT and LRT. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as a variant of uncertain significance.
Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire RCV000201421 SCV000239920 pathogenic Abnormality of neuronal migration 2014-10-31 no assertion criteria provided clinical testing

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