ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.2908A>T (p.Asn970Tyr)

gnomAD frequency: 0.00004  dbSNP: rs914483901
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001959651 SCV002249323 uncertain significance Jeune thoracic dystrophy 2021-11-19 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 970 of the DYNC2H1 protein (p.Asn970Tyr). This variant is present in population databases (no rsID available, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with DYNC2H1-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt DYNC2H1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV003170236 SCV003882256 uncertain significance Inborn genetic diseases 2023-02-06 criteria provided, single submitter clinical testing The c.2908A>T (p.N970Y) alteration is located in exon 20 (coding exon 20) of the DYNC2H1 gene. This alteration results from a A to T substitution at nucleotide position 2908, causing the asparagine (N) at amino acid position 970 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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