ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.624_625delinsAA (p.Phe209Ile)

dbSNP: rs431905498
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rare Disease Group, Clinical Genetics, Karolinska Institutet RCV000754947 SCV000788372 uncertain significance Jeune thoracic dystrophy 2018-05-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000754947 SCV002170286 pathogenic Jeune thoracic dystrophy 2024-10-30 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 209 of the DYNC2H1 protein (p.Phe209Ile). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This missense change has been observed in individual(s) with asphyxiating thoracic dystrophy and/or short-rib polydactyly syndrome (PMID: 19361615, 29068549). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 6509). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000006882 SCV005678260 likely pathogenic Asphyxiating thoracic dystrophy 3 2024-05-30 criteria provided, single submitter clinical testing
OMIM RCV000006882 SCV000027078 pathogenic Asphyxiating thoracic dystrophy 3 2009-04-01 no assertion criteria provided literature only

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