ClinVar Miner

Submissions for variant NM_006996.3(SLC19A2):c.287G>A (p.Arg96His)

dbSNP: rs558617037
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001100388 SCV001256907 uncertain significance Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness 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.
Ambry Genetics RCV002556028 SCV003637607 uncertain significance Inborn genetic diseases 2022-08-08 criteria provided, single submitter clinical testing The c.287G>A (p.R96H) alteration is located in exon 2 (coding exon 2) of the SLC19A2 gene. This alteration results from a G to A substitution at nucleotide position 287, causing the arginine (R) at amino acid position 96 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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