ClinVar Miner

Submissions for variant NM_012434.5(SLC17A5):c.409del (p.Met137fs)

dbSNP: rs794729653
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000185578 SCV000486112 likely pathogenic Salla disease 2016-03-30 criteria provided, single submitter clinical testing
Invitae RCV000185578 SCV001222701 pathogenic Salla disease 2022-04-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met137Cysfs*3) in the SLC17A5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC17A5 are known to be pathogenic (PMID: 10581036, 10947946, 15172001). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SLC17A5-related conditions. ClinVar contains an entry for this variant (Variation ID: 203395). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000185578 SCV002027579 likely pathogenic Salla disease 2021-09-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV000185578 SCV004201209 likely pathogenic Salla disease 2023-10-20 criteria provided, single submitter clinical testing
Division of Human Genetics, Children's Hospital of Philadelphia RCV000185578 SCV000238478 likely pathogenic Salla disease 2014-07-17 no assertion criteria provided research The SLC17A5 gene variant (c.409delA; p.Met137Cysfs*3) identified in this patient is a novel frameshift variant, which results in a truncated protein, considered a pathogenic variant .
Division of Human Genetics, Children's Hospital of Philadelphia RCV000185579 SCV000238479 likely pathogenic Sialic acid storage disease, severe infantile type 2014-07-17 no assertion criteria provided research The SLC17A5 gene variant (c.409delA; p.Met137Cysfs*3) identified in this patient is a novel frameshift variant, which results in a truncated protein, considered a pathogenic variant .

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