ClinVar Miner

Submissions for variant NM_001170700.3(DTHD1):c.256T>C (p.Cys86Arg)

gnomAD frequency: 0.00001  dbSNP: rs886037840
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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 RCV001053619 SCV001217891 uncertain significance not provided 2024-01-04 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the DTHD1 mRNA. The next in-frame methionine is located at codon 41. This variant is present in population databases (no rsID available, gnomAD 0.005%). Disruption of the initiator codon has been observed in individual(s) with Leber congenital amaurosis (PMID: 23105016). ClinVar contains an entry for this variant (Variation ID: 242990). 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.
OMIM RCV000234966 SCV000292299 uncertain significance Muscular dystrophy; Leber congenital amaurosis 2013-02-01 no assertion criteria provided literature only

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