ClinVar Miner

Submissions for variant NM_001024845.3(SLC6A9):c.1525_1526del (p.Ala509fs)

dbSNP: rs749973223
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV002273243 SCV002557991 uncertain significance Atypical glycine encephalopathy 2020-05-25 criteria provided, single submitter clinical testing A heterozygous deletion variant was identified, NM_001024845.2(SLC6A9):c.1525_1526del in exon 12 of 14 of the SLC6A9 gene. This deletion is predicted to cause a frameshift from amino acid position 509 introducing a stop codon 93 residues downstream, NP_001020016.1(SLC6A9):p.(Ala509Hisfs*93), resulting in loss of normal protein function through truncation (less than 1/3 of protein affected). The variant is present in the gnomAD population database at a frequency of 0.0004% (1 heterozygote, 0 homozygotes). It has not been previously observed in clinical cases. Based on information available at the time of curation, this variant has been classified as a VARIANT of UNCERTAIN SIGNIFICANCE (VUS).

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