ClinVar Miner

Submissions for variant NM_018055.5(NODAL):c.2T>C (p.Met1Thr)

dbSNP: rs2493096439
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003148537 SCV003836483 likely pathogenic Heterotaxy, visceral, 5, autosomal 2022-09-09 criteria provided, single submitter clinical testing
Duke University Health System Sequencing Clinic, Duke University Health System RCV003148537 SCV003918926 uncertain significance Heterotaxy, visceral, 5, autosomal 2023-04-20 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV003148537 SCV005761631 uncertain significance Heterotaxy, visceral, 5, autosomal 2024-08-15 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the NODAL mRNA. The next in-frame methionine is located at codon 44. This variant is not present in population databases (gnomAD no frequency). Disruption of the initiator codon has been observed in individual(s) with clinical features of NODAL-related conditions (PMID: 37853563). ClinVar contains an entry for this variant (Variation ID: 2442204). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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