ClinVar Miner

Submissions for variant NM_032608.7(MYO18B):c.3431C>T (p.Ala1144Val)

gnomAD frequency: 0.00198  dbSNP: rs185802314
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000881689 SCV001024879 likely benign not provided 2025-01-29 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000881689 SCV001715360 uncertain significance not provided 2019-04-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002539302 SCV003560465 uncertain significance Inborn genetic diseases 2021-07-16 criteria provided, single submitter clinical testing The c.3431C>T (p.A1144V) alteration is located in exon 19 (coding exon 18) of the MYO18B gene. This alteration results from a C to T substitution at nucleotide position 3431, causing the alanine (A) at amino acid position 1144 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003910395 SCV004722712 likely benign MYO18B-related disorder 2024-05-29 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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