ClinVar Miner

Submissions for variant NM_003041.4(SLC5A2):c.1645G>A (p.Ala549Thr)

gnomAD frequency: 0.00017  dbSNP: rs140508520
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001119064 SCV001277404 uncertain significance Familial renal glucosuria 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.
Fulgent Genetics, Fulgent Genetics RCV001119064 SCV002784958 uncertain significance Familial renal glucosuria 2022-05-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002556535 SCV003692088 uncertain significance Inborn genetic diseases 2021-06-11 criteria provided, single submitter clinical testing The c.1645G>A (p.A549T) alteration is located in exon 12 (coding exon 12) of the SLC5A2 gene. This alteration results from a G to A substitution at nucleotide position 1645, causing the alanine (A) at amino acid position 549 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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