ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.449C>T (p.Thr150Met)

gnomAD frequency: 0.00003  dbSNP: rs777070083
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002315295 SCV000849030 uncertain significance Inborn genetic diseases 2017-02-20 criteria provided, single submitter clinical testing The p.T150M variant (also known as c.449C>T), located in coding exon 4 of the ANKRD11 gene, results from a C to T substitution at nucleotide position 449. The threonine at codon 150 is replaced by methionine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV003525950 SCV004285424 benign KBG syndrome 2024-01-27 criteria provided, single submitter clinical testing

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