ClinVar Miner

Submissions for variant NM_001172700.2(SHROOM1):c.1319C>T (p.Pro440Leu)

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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 RCV004205971 SCV003703432 uncertain significance not specified 2024-04-09 criteria provided, single submitter clinical testing The c.1319C>T (p.P440L) alteration is located in exon 7 (coding exon 4) of the SHROOM1 gene. This alteration results from a C to T substitution at nucleotide position 1319, causing the proline (P) at amino acid position 440 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003906610 SCV004722378 likely benign SHROOM1-related disorder 2023-09-29 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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