ClinVar Miner

Submissions for variant NM_030762.3(BHLHE41):c.550G>A (p.Val184Ile)

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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 RCV004110850 SCV003590014 uncertain significance not specified 2022-02-11 criteria provided, single submitter clinical testing The c.550G>A (p.V184I) alteration is located in exon 5 (coding exon 5) of the BHLHE41 gene. This alteration results from a G to A substitution at nucleotide position 550, causing the valine (V) at amino acid position 184 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003953987 SCV004777338 likely benign BHLHE41-related disorder 2023-03-25 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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