ClinVar Miner

Submissions for variant NM_032608.7(MYO18B):c.4766G>A (p.Cys1589Tyr)

gnomAD frequency: 0.00027  dbSNP: rs375717740
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001508925 SCV001715363 uncertain significance not provided 2019-04-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001508925 SCV002111548 uncertain significance not provided 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 1589 of the MYO18B protein (p.Cys1589Tyr). The cysteine residue is weakly conserved and there is a large physicochemical difference between cysteine and tyrosine. This variant is present in population databases (rs375717740, gnomAD 0.07%), including at least one homozygous and/or hemizygous individual. 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: 1163670). 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.
Ambry Genetics RCV002564265 SCV003650042 uncertain significance Inborn genetic diseases 2024-12-02 criteria provided, single submitter clinical testing The c.4766G>A (p.C1589Y) alteration is located in exon 29 (coding exon 28) of the MYO18B gene. This alteration results from a G to A substitution at nucleotide position 4766, causing the cysteine (C) at amino acid position 1589 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003130532 SCV003817810 uncertain significance Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome 2021-11-11 criteria provided, single submitter clinical testing

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