ClinVar Miner

Submissions for variant NM_002582.4(PARN):c.621G>T (p.Gly207=)

dbSNP: rs964560089
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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 RCV002009804 SCV002267076 uncertain significance Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 2021-01-30 criteria provided, single submitter clinical testing This sequence change affects codon 207 of the PARN mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PARN protein. This variant is not present in population databases (ExAC no frequency). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with PARN-related conditions.

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