ClinVar Miner

Submissions for variant NM_178335.3(CCDC50):c.1231C>T (p.Pro411Ser)

dbSNP: rs138707536
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155036 SCV000204720 likely benign not specified 2014-08-07 criteria provided, single submitter clinical testing Pro411Ser in exon 9 of CCDC50: This variant is not expected to have clinical sig nificance due to a lack of conservation across species, including mammals. Of no te, squirrel, dog, and star-nosed mole have a serine (Ser) at this position. In addition, computational prediction tools do not suggest a high likelihood of imp act to the protein. This variant has also been identified in 1/8598 of European American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washin gton.edu/EVS/; dbSNP rs138707536).
GeneDx RCV001567552 SCV001791260 uncertain significance not provided 2023-01-10 criteria provided, single submitter clinical testing Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV000155036 SCV005547776 uncertain significance not specified 2024-10-12 criteria provided, single submitter clinical testing The c.1231C>T (p.P411S) alteration is located in exon 9 (coding exon 9) of the CCDC50 gene. This alteration results from a C to T substitution at nucleotide position 1231, causing the proline (P) at amino acid position 411 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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