ClinVar Miner

Submissions for variant NM_033225.6(CSMD1):c.4838C>T (p.Ser1613Phe)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004181089 SCV003682655 uncertain significance not specified 2022-12-16 criteria provided, single submitter clinical testing The c.4838C>T (p.S1613F) alteration is located in exon 30 (coding exon 30) of the CSMD1 gene. This alteration results from a C to T substitution at nucleotide position 4838, causing the serine (S) at amino acid position 1613 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003963749 SCV004782976 likely benign CSMD1-related disorder 2022-08-16 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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