ClinVar Miner

Submissions for variant NM_012434.5(SLC17A5):c.85G>A (p.Ala29Thr)

gnomAD frequency: 0.00098  dbSNP: rs141463026
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001086121 SCV001110159 benign Salla disease 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000963033 SCV001154816 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing SLC17A5: BP4
Illumina Laboratory Services, Illumina RCV001086121 SCV001326372 uncertain significance Salla disease 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001164258 SCV001326373 uncertain significance Sialic acid storage disease, severe infantile type 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genome-Nilou Lab RCV001086121 SCV002027568 likely benign Salla disease 2021-09-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003935964 SCV004751528 likely benign SLC17A5-related condition 2023-11-30 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001086121 SCV001453519 benign Salla disease 2020-09-16 no assertion criteria provided clinical testing

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