ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.12556G>A (p.Glu4186Lys)

dbSNP: rs764491760
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000168330 SCV000219018 uncertain significance Jeune thoracic dystrophy 2021-08-20 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 4193 of the DYNC2H1 protein (p.Glu4193Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant has not been reported in the literature in individuals affected with DYNC2H1-related conditions. 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.

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