ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.485-3C>T

dbSNP: rs761332159
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427093 SCV000533793 likely benign not specified 2016-11-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001046589 SCV001210498 uncertain significance Charcot-Marie-Tooth disease type 4A 2019-11-20 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. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with GDAP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 390860). This variant is present in population databases (rs761332159, ExAC 0.01%). This sequence change falls in intron 3 of the GDAP1 gene. It does not directly change the encoded amino acid sequence of the GDAP1 protein, but it affects a nucleotide within the consensus splice site of the intron.

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