ClinVar Miner

Submissions for variant NM_003246.4(THBS1):c.1060C>T (p.Pro354Ser)

gnomAD frequency: 0.00009  dbSNP: rs142519614
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano RCV001270229 SCV001364360 likely pathogenic Premature ovarian failure 2020-03-02 criteria provided, single submitter research
Ambry Genetics RCV004033450 SCV004964892 uncertain significance not specified 2021-06-22 criteria provided, single submitter clinical testing The c.1060C>T (p.P354S) alteration is located in exon 7 (coding exon 6) of the THBS1 gene. This alteration results from a C to T substitution at nucleotide position 1060, causing the proline (P) at amino acid position 354 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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