ClinVar Miner

Submissions for variant NM_015884.4(MBTPS2):c.119A>C (p.Asn40Thr)

dbSNP: rs777980245
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197532 SCV001368311 uncertain significance IFAP syndrome 1, with or without BRESHECK syndrome 2020-04-02 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP2,BP4. This variant was detected in hemizygous state.
Ambry Genetics RCV002560236 SCV003622338 uncertain significance Inborn genetic diseases 2022-05-04 criteria provided, single submitter clinical testing The c.119A>C (p.N40T) alteration is located in exon 2 (coding exon 2) of the MBTPS2 gene. This alteration results from a A to C substitution at nucleotide position 119, causing the asparagine (N) at amino acid position 40 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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