ClinVar Miner

Submissions for variant NM_139319.3(SLC17A8):c.1689del (p.Gly564fs)

dbSNP: rs757543449
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001557781 SCV001779608 uncertain significance not provided 2020-02-12 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation as the last 26 amino acids are lost and replaced with 11 incorrect amino acids, although loss-of-function variants have not been reported downstream of this position in the protein; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001557781 SCV003266436 uncertain significance not provided 2024-09-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly564Aspfs*12) in the SLC17A8 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 26 amino acid(s) of the SLC17A8 protein. This variant is present in population databases (rs757543449, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SLC17A8-related conditions. ClinVar contains an entry for this variant (Variation ID: 1194885). 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.

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