ClinVar Miner

Submissions for variant NM_032608.7(MYO18B):c.7429A>G (p.Thr2477Ala)

gnomAD frequency: 0.00002  dbSNP: rs1280344801
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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 RCV002011063 SCV002295985 uncertain significance not provided 2022-05-15 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 2477 of the MYO18B protein (p.Thr2477Ala). This variant is present in population databases (no rsID available, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with MYO18B-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). 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 RCV003492722 SCV004236741 uncertain significance Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome 2023-02-07 criteria provided, single submitter clinical testing
GeneDx RCV002011063 SCV005080276 uncertain significance not provided 2024-01-10 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004641879 SCV005142431 uncertain significance Inborn genetic diseases 2024-04-06 criteria provided, single submitter clinical testing The c.7429A>G (p.T2477A) alteration is located in exon 43 (coding exon 42) of the MYO18B gene. This alteration results from a A to G substitution at nucleotide position 7429, causing the threonine (T) at amino acid position 2477 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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