ClinVar Miner

Submissions for variant NM_006790.3(MYOT):c.1345C>G (p.Pro449Ala)

gnomAD frequency: 0.00009  dbSNP: rs766650528
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000553497 SCV000638807 uncertain significance Myofibrillar myopathy 3 2024-01-29 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 449 of the MYOT protein (p.Pro449Ala). This variant is present in population databases (rs766650528, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with MYOT-related conditions. ClinVar contains an entry for this variant (Variation ID: 464366). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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 RCV003243182 SCV003951807 uncertain significance Inborn genetic diseases 2023-06-01 criteria provided, single submitter clinical testing The c.1345C>G (p.P449A) alteration is located in exon 10 (coding exon 9) of the MYOT gene. This alteration results from a C to G substitution at nucleotide position 1345, causing the proline (P) at amino acid position 449 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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