ClinVar Miner

Submissions for variant NM_001352754.2(ARMC9):c.725T>A (p.Ile242Asn)

dbSNP: rs147777576
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000787947 SCV000926968 uncertain significance Joubert syndrome 30 2019-01-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001856216 SCV002260282 uncertain significance not provided 2022-07-26 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 636241). This variant has not been reported in the literature in individuals affected with ARMC9-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with asparagine, which is neutral and polar, at codon 242 of the ARMC9 protein (p.Ile242Asn).

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