ClinVar Miner

Submissions for variant NM_012434.5(SLC17A5):c.903C>G (p.Tyr301Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002306680 SCV002602709 likely pathogenic Sialic acid storage disease, severe infantile type; Salla disease 2022-01-26 criteria provided, single submitter clinical testing NM_012434.4(SLC17A5):c.903C>G(Y301*) is expected to be pathogenic in the context of free sialic acid storage disorders. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in SLC17A5, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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