ClinVar Miner

Submissions for variant NM_003235.5(TG):c.1628C>G (p.Thr543Ser)

gnomAD frequency: 0.00011  dbSNP: rs763864684
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001162889 SCV001324868 uncertain significance Iodotyrosyl coupling defect 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 RCV002558558 SCV003712020 uncertain significance Inborn genetic diseases 2024-02-02 criteria provided, single submitter clinical testing The c.1628C>G (p.T543S) alteration is located in exon 9 (coding exon 9) of the TG gene. This alteration results from a C to G substitution at nucleotide position 1628, causing the threonine (T) at amino acid position 543 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004555618 SCV004117185 uncertain significance TG-related disorder 2023-09-22 criteria provided, single submitter clinical testing The TG c.1628C>G variant is predicted to result in the amino acid substitution p.Thr543Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.014% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/8-133899245-C-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Breakthrough Genomics, Breakthrough Genomics RCV004695052 SCV005196118 uncertain significance not provided criteria provided, single submitter not provided

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