ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.10473A>C (p.Lys3491Asn)

dbSNP: rs201109134
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002392636 SCV002703357 uncertain significance Inborn genetic diseases 2022-01-30 criteria provided, single submitter clinical testing The p.K3491N variant (also known as c.10473A>C), located in coding exon 55 of the DYNC1H1 gene, results from an A to C substitution at nucleotide position 10473. The lysine at codon 3491 is replaced by asparagine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003096963 SCV003272301 likely benign Charcot-Marie-Tooth disease axonal type 2O 2023-06-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003408268 SCV004113970 uncertain significance DYNC1H1-related disorder 2022-09-19 criteria provided, single submitter clinical testing The DYNC1H1 c.10473A>C variant is predicted to result in the amino acid substitution p.Lys3491Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0029% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/14-102500372-A-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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