ClinVar Miner

Submissions for variant NM_000342.4(SLC4A1):c.1258G>A (p.Ala420Thr)

gnomAD frequency: 0.00015  dbSNP: rs142905862
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001127589 SCV001286916 uncertain significance Hereditary spherocytosis type 4 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 RCV001127590 SCV001286917 uncertain significance Hemolytic anemia 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 RCV001127591 SCV001286918 uncertain significance Autosomal dominant distal renal tubular acidosis 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.
Invitae RCV001362841 SCV001558884 likely benign not provided 2023-12-27 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001362841 SCV004237347 uncertain significance not provided 2023-05-29 criteria provided, single submitter clinical testing

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