ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.1715A>T (p.Lys572Ile)

gnomAD frequency: 0.00001  dbSNP: rs190861340
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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 RCV001979002 SCV002217773 uncertain significance Jeune thoracic dystrophy 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces lysine with isoleucine at codon 572 of the DYNC2H1 protein (p.Lys572Ile). The lysine residue is moderately conserved and there is a moderate physicochemical difference between lysine and isoleucine. This variant is present in population databases (rs190861340, ExAC 0.03%). 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 RCV005331063 SCV005998987 uncertain significance Inborn genetic diseases 2025-02-08 criteria provided, single submitter clinical testing The c.1715A>T (p.K572I) alteration is located in exon 12 (coding exon 12) of the DYNC2H1 gene. This alteration results from a A to T substitution at nucleotide position 1715, causing the lysine (K) at amino acid position 572 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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