ClinVar Miner

Submissions for variant NM_001374504.1(TMPRSS6):c.1086G>A (p.Thr362=)

gnomAD frequency: 0.00001  dbSNP: rs976867694
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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 RCV001145969 SCV001306679 uncertain significance Microcytic 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV003558714 SCV004300008 uncertain significance not provided 2023-08-04 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 900614). This variant has been observed in individual(s) with iron-refractory iron deficiency anemia (PMID: 25873000). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change affects codon 371 of the TMPRSS6 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the TMPRSS6 protein. This variant also falls at the last nucleotide of exon 9, which is part of the consensus splice site for this exon.

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