ClinVar Miner

Submissions for variant NM_001005373.4(LRSAM1):c.2046G>A (p.Glu682=)

gnomAD frequency: 0.00001  dbSNP: rs767249563
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001215496 SCV001387244 uncertain significance Charcot-Marie-Tooth disease axonal type 2P 2022-02-27 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. Variants that disrupt 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 may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 944977). This variant has not been reported in the literature in individuals affected with LRSAM1-related conditions. This variant is present in population databases (rs767249563, gnomAD 0.02%). This sequence change affects codon 682 of the LRSAM1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the LRSAM1 protein. This variant also falls at the last nucleotide of exon 24, which is part of the consensus splice site for this exon.

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