ClinVar Miner

Submissions for variant NM_001024845.3(SLC6A9):c.962G>A (p.Arg321Gln)

gnomAD frequency: 0.00002  dbSNP: rs201870833
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333744 SCV001526418 uncertain significance Atypical glycine encephalopathy 2018-12-22 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001333744 SCV003295227 uncertain significance Atypical glycine encephalopathy 2023-04-24 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). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1031818). This variant has not been reported in the literature in individuals affected with SLC6A9-related conditions. This variant is present in population databases (rs201870833, gnomAD 0.002%). This sequence change affects codon 394 of the SLC6A9 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SLC6A9 protein. This variant also falls at the last nucleotide of exon 8, which is part of the consensus splice site for this exon.

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