ClinVar Miner

Submissions for variant NM_000369.5(TSHR):c.484C>T (p.Pro162Ser)

dbSNP: rs121908863
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University RCV000761466 SCV000891571 uncertain significance Hypothyroidism due to TSH receptor mutations 2017-12-30 criteria provided, single submitter curation
Constantin Polychronakos Laboratory, The Research Institute of the McGill University Health Centre RCV000761466 SCV005911654 pathogenic Hypothyroidism due to TSH receptor mutations 2025-04-15 criteria provided, single submitter clinical testing The NM_000369.5(TSHR):c.484C>T(p.Pro162Ser) variant was found in a proband with thyroid hypoplasia born to consanguineous parents (first cousins). The variant allele was found at a frequency of 0.00000342 in the GnomAD database, with no homozygous occurrence (PM2). Variant has been reported in ClinVar as Uncertain significance (★). It also has been reported previously to cause congenital hypothyroidism in literature (PubMed: 30240412). Another variant affecting the same amino acid position but resulting in a different missense (i.e. P162A) has been classified as Likely pathogenic (PM5). Patient’s phenotype or family history is highly specific for congenital hypothyroidism due to TSHR mutations (PP4). The variant detected in a homozygous state in affected cases in congenital hypothyroidism due to TSHR mutation with a possibility of recessive inheritance (PM3). c.484C>T is located in a mutational hot spot without benign variation (PM1). According to the ACMG guideline, this variant is classified as a Pathogenic variant.

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