ClinVar Miner

Submissions for variant NM_012434.4(SLC17A5):c.507delA (p.Leu170Terfs) (rs386833992)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000049969 SCV000220348 likely pathogenic Salla disease 2014-05-23 criteria provided, single submitter literature only
Integrated Genetics/Laboratory Corporation of America RCV000049969 SCV000699339 likely pathogenic Salla disease 2017-01-06 criteria provided, single submitter clinical testing Variant summary: The SLC17A5 c.507delA (p.Leu170Terfs) variant results in a premature termination codon, predicted to cause a truncated or absent SLC17A5 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. One in silico tool predicts a damaging outcome for this variant. This variant was found in 2/121290 control chromosomes at a frequency of 0.0000165, which does not exceed the estimated maximal expected allele frequency of a pathogenic SLC17A5 variant (0.0023717). The variant has been reported in the literature once in an fetal proband. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely pathogenic. Taken together, this variant is classified as likely pathogenic.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049969 SCV000082378 probable-pathogenic Salla disease no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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