ClinVar Miner

Submissions for variant NM_001080397.3(SLC45A1):c.86C>T (p.Thr29Met)

gnomAD frequency: 0.00003  dbSNP: rs376642457
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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 RCV004185750 SCV003680844 uncertain significance not specified 2022-08-16 criteria provided, single submitter clinical testing The c.86C>T (p.T29M) alteration is located in exon 1 (coding exon 1) of the SLC45A1 gene. This alteration results from a C to T substitution at nucleotide position 86, causing the threonine (T) at amino acid position 29 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Neuberg Centre For Genomic Medicine, NCGM RCV004577032 SCV005061210 uncertain significance Intellectual developmental disorder with neuropsychiatric features 2023-06-22 criteria provided, single submitter clinical testing The missense c.86C>T (p.Thr29Met) variant in the SLC45A1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is reported with the allele frequency of 0.01% in the gnomAD Exomes. This variant has been reported to the ClinVar database as Uncertain significance. Computational evidence (SIFT - Damaging and MutationTaster -Disease causing) predicts conflicting evidence on protein structure and function for this variant. The reference amino acid at this position in SLC45A1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Threonine at position 29 is changed to a Methionine changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS).

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