ClinVar Miner

Submissions for variant NM_000316.3(PTH1R):c.401A>C (p.Tyr134Ser)

dbSNP: rs1575520937
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV000855713 SCV000902435 uncertain significance Eiken syndrome 2019-04-11 criteria provided, single submitter clinical testing A novel variant, c.401A>C is identified in PTH1R gene, which is known to cause Eiken syndrome. The variant is observed in heterozygous state in both the parents and is found in wild type or heterozygous state in the siblings. The phenotype of the patient is in concordance with the condition. Hence, according to ACMG guidelines the variant is interpreted to be of uncertain significance. Functional characterization of the variant is recommended before clinical utility.
OMIM RCV000855713 SCV001745210 pathogenic Eiken syndrome 2021-07-06 no assertion criteria provided literature only

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