ClinVar Miner

Submissions for variant NM_001379081.2(FREM1):c.3631C>T (p.Pro1211Ser)

gnomAD frequency: 0.00064  dbSNP: rs76714828
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176238 SCV000227856 uncertain significance not provided 2015-06-04 criteria provided, single submitter clinical testing
GeneDx RCV000176238 SCV001820197 uncertain significance not provided 2020-05-21 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000176238 SCV002355284 likely benign not provided 2024-10-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002516703 SCV003726498 uncertain significance Inborn genetic diseases 2024-05-30 criteria provided, single submitter clinical testing The c.3631C>T (p.P1211S) alteration is located in exon 21 (coding exon 19) of the FREM1 gene. This alteration results from a C to T substitution at nucleotide position 3631, causing the proline (P) at amino acid position 1211 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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