ClinVar Miner

Submissions for variant NM_032608.7(MYO18B):c.4318G>A (p.Ala1440Thr)

gnomAD frequency: 0.00004  dbSNP: rs769150604
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001951876 SCV002190928 uncertain significance not provided 2023-12-14 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1440 of the MYO18B protein (p.Ala1440Thr). This variant is present in population databases (rs769150604, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with MYO18B-related conditions. ClinVar contains an entry for this variant (Variation ID: 1417789). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Revvity Omics, Revvity RCV003492700 SCV004236739 uncertain significance Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome 2023-05-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004043591 SCV004950451 uncertain significance Inborn genetic diseases 2024-03-07 criteria provided, single submitter clinical testing The c.4318G>A (p.A1440T) alteration is located in exon 26 (coding exon 25) of the MYO18B gene. This alteration results from a G to A substitution at nucleotide position 4318, causing the alanine (A) at amino acid position 1440 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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